WorldWideScience

Sample records for nonsyndromic deafness genes

  1. Mutation analysis of GJB2 gene and prenatal diagnosis in a non-syndromic deafness family

    Directory of Open Access Journals (Sweden)

    Xiao-hua CHEN

    2014-08-01

    Full Text Available Objective To identify the pathogenic gene in a non-syndromic deafness family, provide an accurate genetic consultation and early intervention for deaf family to reduce the incidence of congenital deafness. Methods Mutation analysis was carried out by polymerase chain reaction followed by DNA sequencing of coding region of GJB2 gene. The fetal DNA was extracted from the amniotic fluid cells by amniocentesis at 20 weeks during pregnancy. The genotype of the fetus was characterized for predicting the status of hearing. Results Complex heterozygous mutations 235delC and 176-191del16bp were detected in the proband of the family, heterozygous mutation 176-191del16bp was detected in the father, and 235delC was detected in the mother. Fetus carried 235delC heterozygous mutation inherited from his mother. Conclusions The proband's hearing loss is resulted from the complex heterozygous mutations 235delC and 176-191del16bp in GJB2 gene. Fetus is a heterozygous mutation 235delC carrier. Prenatal diagnosis for deafness assisted by genetic test can provide efficient guidance about offspring's hearing condition, and prevent another deaf-mute member from birth. DOI: 10.11855/j.issn.0577-7402.2014.07.09

  2. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

    Science.gov (United States)

    Ahmed, Zubair M; Riazuddin, Saima; Aye, Sandar; Ali, Rana A; Venselaar, Hanka; Anwar, Saima; Belyantseva, Polina P; Qasim, Muhammad; Riazuddin, Sheikh; Friedman, Thomas B

    2008-10-01

    Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and vision impairment (type 1 Usher syndrome; USH1F) or nonsyndromic deafness (DFNB23). Human PCDH15 is reported to be composed of 35 exons and encodes a variety of isoforms with 3-11 ectodomains (ECs), a transmembrane domain and a carboxy-terminal cytoplasmic domain (CD). Building on these observations, we describe an updated gene structure that has four additional exons of PCDH15 and isoforms that can be subdivided into four classes. Human PCDH15 encodes three alternative, evolutionarily conserved unique cytoplasmic domains (CD1, CD2 or CD3). Families ascertained on the basis of prelingual hearing loss were screened for linkage of this phenotype to markers for PCDH15 on chromosome 10q21.1. In seven of twelve families segregating USH1, we identified homozygous mutant alleles (one missense, one splice site, three nonsense and two deletion mutations) of which six are novel. One family was segregating nonsyndromic deafness DFNB23 due to a homozygous missense mutation. To date, in our cohort of 557 Pakistani families, we have found 11 different PCDH15 mutations that account for deafness in 13 families. Molecular modeling provided mechanistic insight into the phenotypic variation in severity of the PCDH15 missense mutations. We did not find pathogenic mutations in five of the twelve USH1 families linked to markers for USH1F, which suggest either the presence of mutations of yet additional undiscovered exons of PCDH15, mutations in the introns or regulatory elements of PCDH15, or an additional locus for type I USH at chromosome 10q21.1.

  3. Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

    Science.gov (United States)

    Doucette, Lance; Merner, Nancy D; Cooke, Sandra; Ives, Elizabeth; Galutira, Dante; Walsh, Vanessa; Walsh, Tom; MacLaren, Linda; Cater, Tracey; Fernandez, Bridget; Green, Jane S; Wilcox, Edward R; Shotland, Lawrence I; Shotland, Larry; Li, Xiaoyan Cindy; Li, X C; Lee, Ming; King, Mary-Claire; Young, Terry-Lynn

    2009-05-01

    We studied a consanguineous family (Family A) from the island of Newfoundland with an autosomal recessive form of prelingual, profound, nonsyndromic sensorineural hearing loss. A genome-wide scan mapped the deafness trait to 10q21-22 (max LOD score of 4.0; D10S196) and fine mapping revealed a 16 Mb ancestral haplotype in deaf relatives. The PCDH15 gene was mapped within the critical region and was an interesting candidate because truncating mutations cause Usher syndrome type IF (USH1F) and two missense mutations have been previously associated with isolated deafness (DFNB23). Sequencing of the PCDH15 gene revealed 33 sequencing variants. Three of these variants were homozygous exclusively in deaf siblings but only one of them was not seen in ethnically matched controls. This novel c.1583 T>A transversion predicts an amino-acid substitution of a valine with an aspartic acid at codon 528 (V528D). Like the two DFNB23 mutations, the V528D mutation in Family A occurs in a highly conserved extracellular cadherin (EC) domain of PCDH15 and is predicted to be more deleterious than the previously identified DFNB23 missense mutations (R134G and G262D). Physical assessment, vestibular and visual function testing in deaf adults ruled out syndromic deafness because of Usher syndrome. This study validates the DFNB23 designation and supports the hypothesis that missense mutations in conserved motifs of PCDH15 cause nonsyndromic hearing loss. This emerging genotype-phenotype correlation in USH1F is similar to that in several other USH1 genes and cautions against a prognosis of a dual sensory loss in deaf children found to be homozygous for hypomorphic mutations at the USH1F locus.

  4. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

    Science.gov (United States)

    Coyle, B; Coffey, R; Armour, J A; Gausden, E; Hochberg, Z; Grossman, A; Britton, K; Pembrey, M; Reardon, W; Trembath, R

    1996-04-01

    Inherited causes account for about 50% of individuals presenting with childhood (prelingual) hearing loss, of which 70% are due to mutation in numerous single genes which impair auditory function alone (non-syndromic). The remainder are associated with other developmental anomalies termed syndromic deafness. Genes responsible for syndromic forms of hearing loss include the COL4A5 gene in Alport syndrome and the PAX3 and MITF genes in Waardenburg syndrome. Pendred syndrome is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement (goitre). Pendred syndrome is the most common syndromal form of deafness, yet the primary defect remains unknown. We have established a panel of 12 families with two or more affected individuals and used them to search for the location of the Pendred gene by linkage analysis. We excluded localization to four previously mapped nonsyndromic deafness loci but obtained conclusive evidence for linkage of the Pendred syndrome gene to microsatellite markers on chromosome 7q31 (D7S495 Zmax 7.32, Qmax = 0). This region contains a gene, DFNBL, for autosomal recessive non-syndromic sensorineural hearing loss. Multipoint analysis indicates that DFNB4 and Pendred syndrome co-localize to the same 5.5 centiMorgan (cM) interval flanked by D7S501 and D7S523. These data raise the possibility that Pendred syndrome is either allelic with DFNB4 or may represent an inherited contiguous gene disorder, not clinically manifest in the heterozygote.

  5. CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

    OpenAIRE

    Astuto, L. M.; Bork, J. M.; Weston, M. D.; Askew, J. W.; Fields, R. R.; Orten, D. J.; Ohliger, S. J.; Riazuddin, S.; Morell, R. J.; Khan, S.; Riazuddin, S.; Kremer, H.; van Hauwe, P.; Moller, C. G.; Cremers, C. W. R. J.

    2002-01-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deaf...

  6. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

    Science.gov (United States)

    Ahmed, Zubair M; Smith, Tenesha N; Riazuddin, Saima; Makishima, Tomoko; Ghosh, Manju; Bokhari, Sirosh; Menon, Puthezhath S N; Deshmukh, Dilip; Griffith, Andrew J; Riazuddin, Sheikh; Friedman, Thomas B; Wilcox, Edward R

    2002-06-01

    Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively. The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. We found an IVS12+5G-->C mutation in the USHIC gene, which is associated with nonsyndromic recessive deafness ( DFNB18) segregating in the original family, S-11/12. No other disease-associated mutation was found in the other 27 exons or in the intron-exon boundaries, and the IVS12+5G-->C mutation was not present in 200 representative unaffected individuals ascertained from the same area of India. An exon-trapping assay with a construct harboring IVS12+5G-->C generated wildtype spliced mRNA having exons 11 and 12 and mRNA that skipped exon 12. We conclude that mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.

  7. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

    Science.gov (United States)

    Astuto, L M; Bork, J M; Weston, M D; Askew, J W; Fields, R R; Orten, D J; Ohliger, S J; Riazuddin, S; Morell, R J; Khan, S; Riazuddin, S; Kremer, H; van Hauwe, P; Moller, C G; Cremers, C W R J; Ayuso, C; Heckenlively, J R; Rohrschneider, K; Spandau, U; Greenberg, J; Ramesar, R; Reardon, W; Bitoun, P; Millan, J; Legge, R; Friedman, T B; Kimberling, W J

    2002-08-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia.

  8. CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

    Science.gov (United States)

    Astuto, L. M.; Bork, J. M.; Weston, M. D.; Askew, J. W.; Fields, R. R.; Orten, D. J.; Ohliger, S. J.; Riazuddin, S.; Morell, R. J.; Khan, S.; Riazuddin, S.; Kremer, H.; van Hauwe, P.; Moller, C. G.; Cremers, C. W. R. J.; Ayuso, C.; Heckenlively, J. R.; Rohrschneider, K.; Spandau, U.; Greenberg, J.; Ramesar, R.; Reardon, W.; Bitoun, P.; Millan, J.; Legge, R.; Friedman, T. B.; Kimberling, W. J.

    2002-01-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP–like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia. PMID:12075507

  9. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.

    Science.gov (United States)

    Khan, Shahid Yar; Riazuddin, Saima; Shahzad, Mohsin; Ahmed, Nazir; Zafar, Ahmad Usman; Rehman, Atteeq Ur; Morell, Robert J; Griffith, Andrew J; Ahmed, Zubair M; Riazuddin, Sheikh; Friedman, Thomas B

    2010-01-01

    Genetic analysis of an inbred Pakistani family PKDF280, segregating prelingual severe to profound sensorineural hearing loss, provided evidence for a DFNB locus on human chromosome 9q34.3. Co-segregation of the deafness trait with marker D9SH159 was determined by a two-point linkage analysis (LOD score 9.43 at theta=0). Two additional large families, PKDF517 and PKDF741, co-segregate recessive deafness with markers linked to the same interval. Haplotype analyses of these three families refined the interval to 3.84 Mb defined by D9S1818 (centromeric) and D9SH6 (telomeric). This interval overlaps with the previously reported DFNB33 locus whose chromosomal map position has been recently revised and assigned to a new position on chromosome 10p11.23-q21.1. The nonsyndromic deafness locus on chromosome 9q segregating in family PKDF280 was designated DFNB79. We are currently screening the 113 candidate DFNB79 genes for mutations and have excluded CACNA1B, EDF1, PTGDS, EHMT1, QSOX2, NOTCH1, MIR126 and MIR602.

  10. Genetic mutations in non-syndromic deafness patients of uyghur and han chinese ethnicities in xinjiang, China: a comparative study

    Directory of Open Access Journals (Sweden)

    Kuyaxi Pilidong

    2011-09-01

    Full Text Available Abstract Background The deafness-associated gene mutation profile varies greatly among regions and races. Due to the multi-ethnic coalition of over one thousand years, non-syndromic deafness (NSD patients of Uyghur ethnicity may exhibit a unique deafness-associated gene mutation spectrum as compared to Han Chinese deaf population. Methods In order to characterize nine loci of four deafness-associated genes of Uyghur NSD patients in comparison with Chinese Han deaf population, NSD patients (n = 350 were enrolled, including Uyghur (n = 199 and Han Chinese (n = 151. Following the history taking, blood samples were collected for DNA extraction. DNA microarray was performed on nine loci of four deafness-associated genes, including 35delG, 176-191del16, 235delC, 299-300delAT, 538C > T, 1555A > G, 1494C > T, 2168A > G, and IVS7-2A > G. The samples that showed the absence of both wild and mutant probe signals were tested for further DNA sequencing analysis. Results The mutations in the nine loci of prevalent deafness-associated genes were detected in 13.06% of Uyghur NSD patients and 32.45% of Han Chinese patients (P GJB2 mutation was detected in 9.05% of Uyghur patients and 16.56% of Han Chinese patients (P > 0.05, respectively. 235delC was the hotspot mutation region in NSD patients of the two ethnicities, whereas 35delG was the mutation hotspot in Uyghur patients. 187delG mutation was detected for the first time in Uyghur NSD patients and considered as an unreported pathological variant of GJB2. SLC26A4 mutation was found in 2.01% of Uyghur patients and 14.57% of Han Chinese patients (P P > 0.05, respectively. The NSD patients exhibited a low frequency of GJB3 mutation regardless of ethnicity. Conclusion Prevalent deafness-associated gene mutations in the nine loci studied were less frequently detected in Uyghur NSD patients than in Han Chinese patients. GJB2 was the most common mutant gene in the two ethnicities, whilst the two ethnicities differed

  11. Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

    Science.gov (United States)

    Winata, S; Arhya, I N; Moeljopawiro, S; Hinnant, J T; Liang, Y; Friedman, T B; Asher, J H

    1995-01-01

    Bengkala is an Indonesian village located on the north shore of Bali that has existed for over 700 years. Currently, 2.2% of the 2185 people in this village have profound congenital deafness. In response to the high incidence of deafness, the people of Bengkala have developed a village specific sign language which is used by many of the hearing and deaf people. Deafness in Bengkala is congenital, sensorineural, non-syndromal, and caused by a fully penetrant autosomal recessive mutation at the DFNB3 locus. The frequency of the DFNB3 mutation is estimated to be 9.4% among hearing people who have a 17.2% chance of being heterozygous for DFNB3. PMID:7616538

  12. [Study of generational risk in deafness inflicted couples using deafness gene microarray technique].

    Science.gov (United States)

    Wang, Ping; Zhao, Jia; Yu, Shu-yuan; Jin, Peng; Zhu, Wei; DU, Bo

    2011-06-01

    To explored the significance of screening the gene mutations of deafness related in deaf-mute (deaf & dumb) family using DNA microarray. Total of 52 couples of deaf-mute were recruited from Changchun deaf-mute community. With an average age of (58.3 ± 6.7) years old (x(-) ± s). Blood samples were obtained with informed consent. Their genomic DNA was extracted from peripheral blood and PCR was performed. Nine of hot spot mutations in four most common deafness pathologic gene were examined with the DNA microarray, including GJB2, GJB3, PDS and mtDNA 12S rRNA genes. At the same time, the results were verified with the traditional methods of sequencing. Fifty of normal people served as a control group. All patients were diagnosed non-syndromic sensorineural hearing loss by subjective pure tone audiometry. Thirty-two of 104 cases appeared GJB2 gene mutation (30.7%), the mutation sites included 35delG, 176del16, 235delC and 299delAT. Eighteen of 32 cases of GJB2 mutations were 235delC (59.1%). Seven of 104 cases appeared SLC26A4 gene IVS7-2 A > G mutation. Questionnaire survey and gene diagnosis revealed that four of 52 families have deaf offspring (7.6%). When a couple carries the same gene mutation, the risk of their children deafness was 100%. The results were confirmed with the traditional methods of sequencing. There is a high risk of deafness if a deaf-mute family is planning to have a new baby. It is very important and helpful to avoid deaf newborns again in deaf-mute family by DNA microarray.

  13. Refinement of the locus for non-syndromic sensorineural deafness ...

    Indian Academy of Sciences (India)

    Unknown

    2004-04-05

    Apr 5, 2004 ... GANG PEI 1,2 , XIANGYIN KONG 1 and LANDIAN HU 1 *. 1Health Science Center ... ever, a further study of the same family revealed that deafness was ... ment with ototoxic drugs, or ear infections, was excluded. There was no .... ness syndrome with blindness, dystonia, fractures, and mental deficiency is ...

  14. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

    Science.gov (United States)

    Schultz, Julie M; Bhatti, Rashid; Madeo, Anne C; Turriff, Amy; Muskett, Julie A; Zalewski, Christopher K; King, Kelly A; Ahmed, Zubair M; Riazuddin, Saima; Ahmad, Nazir; Hussain, Zawar; Qasim, Muhammad; Kahn, Shaheen N; Meltzer, Meira R; Liu, Xue Z; Munisamy, Murali; Ghosh, Manju; Rehm, Heidi L; Tsilou, Ekaterini T; Griffith, Andrew J; Zein, Wadih M; Brewer, Carmen C; Riazuddin, Sheikh; Friedman, Thomas B

    2011-11-01

    Recessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness, vestibular areflexia, and vision loss due to retinitis pigmentosa. For CDH23, encoding cadherin 23, non-syndromic DFNB12 deafness is associated primarily with missense mutations hypothesised to have residual function. In contrast, homozygous nonsense, frame shift, splice site, and some missense mutations of CDH23, all of which are presumably functional null alleles, cause USH1D. The phenotype of a CDH23 compound heterozygote for a DFNB12 allele in trans configuration to an USH1D allele is not known and cannot be predicted from current understanding of cadherin 23 function in the retina and vestibular labyrinth. To address this issue, this study sought CDH23 compound heterozygotes by sequencing this gene in USH1 probands, and families segregating USH1D or DFNB12. Five non-syndromic deaf individuals were identified with normal retinal and vestibular phenotypes that segregate compound heterozygous mutations of CDH23, where one mutation is a known or predicted USH1 allele. One DFNB12 allele in trans configuration to an USH1D allele of CDH23 preserves vision and balance in deaf individuals, indicating that the DFNB12 allele is phenotypically dominant to an USH1D allele. This finding has implications for genetic counselling and the development of therapies for retinitis pigmentosa in Usher syndrome. ACCESSION NUMBERS: The cDNA and protein Genbank accession numbers for CDH23 and cadherin 23 used in this paper are AY010111.2 and AAG27034.2, respectively.

  15. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

    NARCIS (Netherlands)

    Astuto, L.M.; Bork, J.M.; Weston, M.D.; Askew, J.W.; Fields, R.R.; Orten, D.J.; Ohliger, S.J.; Riazuddin, S.; Morell, R.J.; Khan, S.; Kremer, J.M.J.; Hauwe, P. van; Moller, C.G.; Cremers, C.W.R.J.; Ayuso, C.; Heckenlively, J.R.; Rohrschneider, K.; Spandau, U.; Greenberg, J.; Ramesar, R.S.; Reardon, W.; Bitoun, P.; Millan, J.; Legge, R.; Friedman, T.B.; Kimberling, W.J.

    2002-01-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness

  16. Non-syndromic sensorineural prelingual deafness: the importance of genetic counseling in demystifying parents' beliefs about the cause of their children's deafness.

    Science.gov (United States)

    Rodrigues, Fidjy; Paneque, Milena; Reis, Cláudia; Venâncio, Margarida; Sequeiros, Jorge; Saraiva, Jorge

    2013-08-01

    Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the etiology of the deafness and to provide genetic counseling. Consequently, there are no published studies of the prior beliefs of parents about the causes of hereditary deafness of their children and their genetic knowledge after receipt of genetic counseling. In order to evaluate the impact of genetic counseling, 44 parents of 24 children with the diagnosis of non-syndromic sensorineural prelingual deafness due to mutations in the GJB2 (connexin 26), completed surveys before and after genetic counseling. Before counseling 13.6 % of the parents knew the cause of deafness; at a post-counseling setting this percentage was significantly higher, with 84.1 % of the parents accurately identifying the etiology. No significant differences were found between the answers of mothers and fathers either before or after genetic counseling. Parents' level of education was a significant factor in pre-test knowledge. After genetic counseling 95.5 % of the parents stated that the consultation had met their expectations, 70.5 % remembered correctly the inheritance pattern, and 93.2 % correctly recalled the chance of risk of deafness. These results underline the importance of genetic counseling in demystifying parents' beliefs about the etiology of their children's deafness.

  17. Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.

    Directory of Open Access Journals (Sweden)

    Qi Wang

    Full Text Available By analyzing the different phenotypes of two Chinese DFNA9 families with the same mutation located in the intervening region between the LCCL and vWFA domains of cochlin and testing the functional changes in the mutant cochlin, we investigated the different pathogeneses for mutations in LCCL and vWFA domains.Targeted next-generation sequencing for deafness-related genes was used to identify the mutation in the proband in family #208. The probands of family #208 and family #32 with the same p.C162Y mutation were followed for more than 3 years to evaluate the progression of hearing loss and vestibular dysfunction using pure-tone audiometry, caloric testing, electrocochleogram, vestibular-evoked myogenic potential, and video head-impulse test. The disruption of normal cleavage to produce secreted LCCL domain fragments and the tendency to form aggregations of mutant cochlins were tested by in vitro cell experiments.The two families showed different clinical symptoms. Family #32 was identified as having early-onset, progressive sensorineural hearing loss, similar to the symptoms in DFNA9 patients with cochlin mutations in the vWFA domain. The proband of family #208 endured late-onset recurrent paroxysmal vertigo attacks and progressively deteriorating hearing, similar to symptoms in those with cochlin mutations in the LCCL domain. We therefore suggest that the disrupted cleavage of the LCCL domain fragment is likely to cause vestibular dysfunction, and aggregation of mutant cochlin caused by mutations in the vWFA domain is responsible for early-onset hearing loss. The p.C162Y mutation causes either disruption of LCCL domain fragment cleavage or aggregation of mutant cochlin, resulting in the different phenotypes in the two families.This study demonstrates that DFNA9 families with the same genotype may have significantly different phenotypes. The mutation site in cochlin is related to the pathological mechanism underlying the different phenotypes.

  18. Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss

    Directory of Open Access Journals (Sweden)

    Ana Paula Grillo

    2015-01-01

    Full Text Available Single nucleotide polymorphisms (SNPs are important markers in many studies that link DNA sequence variations to phenotypic changes; such studies are expected to advance the understanding of human physiology and elucidate the molecular basis of diseases. The DFNB1 locus, which contains the GJB2 and GJB6 genes, plays a key role in nonsyndromic hearing loss. Previous studies have identified important mutations in this locus, but the contribution of SNPs in the genes has not yet been much investigated. The aim of this study was to investigate the association of nine polymorphisms located within the DFNB1 locus with the occurrence of autosomal recessive nonsyndromic hearing loss (ARNSHL. The SNPs rs3751385 (C/T, rs7994748 (C/T, rs7329857 (C/T, rs7987302 (G/A, rs7322538 (G/A, rs9315400 (C/T, rs877098 (C/T, rs945369 (A/C, and rs7333214 (T/G were genotyped in 122 deaf patients and 132 healthy controls using allele-specific PCR. There were statistically significant differences between patients and controls, in terms of allelic frequencies in the SNPs rs3751385, rs7994748, rs7329857, rs7987302, rs945369, and rs7333214 (P<0.05. No significant differences between the two groups were observed for rs7322538, rs9315400, and rs877098. Our results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans.

  19. GJB2 and mitochondrial A1555G gene mutations in nonsyndromic ...

    Indian Academy of Sciences (India)

    GJB2 mutations in 21.4% of the families in this country. (Bayazit et al. 2003). In this study, GJB2 gene mutations were responsible for 14.7% of genetic nonsyndromic hear- ing losses and 12.5% of the familial cases. These results are lower than in the previous reports where the patient selec- tion criteria may play a role.

  20. Study of Deafness Associated with DFNB59 Gene (pejvakin Mutation in Fars Province

    Directory of Open Access Journals (Sweden)

    S Raeisi

    2012-05-01

    Full Text Available

    Background and Objectives: Hearing loss is the most frequent sensory disorder affecting 1 in 500 neonates with more than 50% of inherited cases. This trait is a very heterogeneous disorder and happens due to genetic or environmental causes or both. More than 46 genes may be involved in non-syndromic hearing loss. Recently, DFNB59 gene has been shown to cause deafness in some Iranian populations. The aim of this study was to determine the role of DFNB59 gene mutations causing deafness in a group of 130 deaf pupils in Fars province. Methods: This descriptive-laboratory based study investigated the frequency of DFNB59 gene mutations using PCR-SSCP/HA strategy. Results: Two different DFNB59 polymorphism including 874G>A and 793C>G were found in 1 and 9 of 130 patients studied respectively. However, no DFNB59 mutation was identified. Conclusion: The results of this study shows that the association of DFNB59 mutations with deafness in Fars province is very low.

  1. A systematic search for linkage with nonsyndromic recessive deafness in two large Middle Eastern inbred kindreds excludes more than 30% of the genome

    Energy Technology Data Exchange (ETDEWEB)

    Weiss, S.; Korostishevsky, M. [Sackler Faculty of Medicine, Ramat-Aviv (Israel); Frydman, M. [Haim Sheba Medical Center, Tel-Hashomer (Israel)] [and others

    1994-09-01

    It has been estimated that as many as 35 loci may individually cause autosomal recessive non-syndromic deafness. The extreme genetic heterogeneity, limited clinical differentiation and phenotypic assortative mating in many western countries make many families unsuitable for genetic linkage studies. Recently the first of those loci was mapped (to 13q) in two consanguineous families from northern Tunisia. We are studying two large highly consanguineous Middle Eastern kindreds (a total of 26 deaf in 98 sampled individuals). Examination in each family showed no evidence of clinical heterogeneity and indicated an uncomplicated profound bilateral sensorineural deafness. We have been able to exclude the 13q locus as the cause of deafness in each kindred and have also excluded such `candidate` loci as regions as those causing Usher`s syndrome type 1 (11q13)(11p), Usher`s syndrome type II (1q32-q41), Waardenburg syndrome type I (2q37), branchio-oto-renal syndrome (8q12-q13), Monge`s deafness (5q31), and Treacher Collins syndrome (5q31.3-q33.3). To date, no lod scores greater than 1 have been obtained in either kindred using 150 RFLT`s, VNTR`s and highly polymorphic microsatellite markers (CA repeats and tetranucleotides). By Morton`s criterion a minimum of 30% of the autosomal genome can be excluded for each kindred separately.

  2. New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss

    International Nuclear Information System (INIS)

    Mkaouar-Rebai, Emna; Tlili, Abdelaziz; Masmoudi, Saber; Charfeddine, Ilhem; Fakhfakh, Faiza

    2008-01-01

    The 12S rRNA gene was shown to be a hot spot for aminoglycoside-induced and non-syndromic hearing loss since several deafness-associated mtDNA mutations were identified in this gene. Among them, we distinguished the A1555G, the C1494T and the T1095C mutations and C-insertion or deletion at position 961. One hundred Tunisian patients with non-syndromic hearing loss and 100 hearing individuals were analysed in this study. A PCR-RFLP analysis with HaeIII restriction enzyme showed the presence of the A1555G mutation in the 12S rRNA gene in only one out of the 100 patients. In addition, PCR-RFLP and radioactive PCR revealed the presence of a new HaeIII polymorphic restriction site in the same gene of 12S rRNA site in 4 patients with non-syndromic hearing loss. UVIDOC-008-XD analyses showed the presence of this new polymorphic restriction site with a variable heteroplasmic rates at position +1517 of the human mitochondrial genome. On the other hand, direct sequencing of the entire mitochondrial 12S rRNA gene in the 100 patients and in 100 hearing individuals revealed the presence of the A750G and A1438G polymorphisms and the absence of the C1494T, T1095C and 961insC mutations in all the tested individuals. Sequencing of the whole mitochondrial genome in the 4 patients showing the new HaeIII polymorphic restriction site revealed only the presence of the A8860G transition in the MT-ATP6 gene and the A4769G polymorphism in the ND2 gene

  3. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

    Directory of Open Access Journals (Sweden)

    Shotland Lawrence I

    2004-09-01

    Full Text Available Abstract Background Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10. TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of TMPRSS3 in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more thoroughly characterized the genomic structure of TMPRSS3. Methods We enrolled families segregating recessive hearing loss from Pakistan and Newfoundland. Microsatellite markers flanking the TMPRSS3 locus were used for linkage analysis. DNA samples from participating individuals were sequenced for TMPRSS3. The structure of TMPRSS3 was characterized bioinformatically and experimentally by sequencing novel cDNA clones of TMPRSS3. Results We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. We also identified two recessive mutations, one of which is novel, of TMPRSS3 segregating in a six-generation extended family from Newfoundland. The spectrum of TMPRSS3 mutations is reviewed in the context of a genotype-phenotype correlation. Our study also revealed a longer isoform of TMPRSS3 with a hitherto unidentified exon encoding a signal peptide, which is expressed in several tissues. Conclusion Mutations of TMPRSS3 contribute to hearing loss in many communities worldwide and account for 1.8% (8 of 449 of Pakistani families segregating congenital deafness as an autosomal recessive trait. The newly identified TMPRSS3 isoform e will be helpful in the functional characterization of the full length protein.

  4. X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

    NARCIS (Netherlands)

    Synofzik, Matthis; Müller Vom Hagen, Jennifer; Haack, Tobias B.; Wilhelm, Christian; Lindig, Tobias; Beck-Wödl, Stefanie; Nabuurs, Sander B.; van Kuilenburg, André B. P.; de Brouwer, Arjan P. M.; Schöls, Ludger

    2014-01-01

    X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1. As only few families have been

  5. Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

    Directory of Open Access Journals (Sweden)

    De Keulenaer Sarah

    2012-05-01

    Full Text Available Abstract Background Hereditary hearing loss (HL can originate from mutations in one of many genes involved in the complex process of hearing. Identification of the genetic defects in patients is currently labor intensive and expensive. While screening with Sanger sequencing for GJB2 mutations is common, this is not the case for the other known deafness genes (> 60. Next generation sequencing technology (NGS has the potential to be much more cost efficient. Published methods mainly use hybridization based target enrichment procedures that are time saving and efficient, but lead to loss in sensitivity. In this study we used a semi-automated PCR amplification and NGS in order to combine high sensitivity, speed and cost efficiency. Results In this proof of concept study, we screened 15 autosomal recessive deafness genes in 5 patients with congenital genetic deafness. 646 specific primer pairs for all exons and most of the UTR of the 15 selected genes were designed using primerXL. Using patient specific identifiers, all amplicons were pooled and analyzed using the Roche 454 NGS technology. Three of these patients are members of families in which a region of interest has previously been characterized by linkage studies. In these, we were able to identify two new mutations in CDH23 and OTOF. For another patient, the etiology of deafness was unclear, and no causal mutation was found. In a fifth patient, included as a positive control, we could confirm a known mutation in TMC1. Conclusions We have developed an assay that holds great promise as a tool for screening patients with familial autosomal recessive nonsyndromal hearing loss (ARNSHL. For the first time, an efficient, reliable and cost effective genetic test, based on PCR enrichment, for newborns with undiagnosed deafness is available.

  6. Association of single nucleotide polymorphisms in WNT genes with the risk of nonsyndromic cleft lip with or without cleft palate.

    Science.gov (United States)

    Rafighdoost, Houshang; Hashemi, Mohammad; Asadi, Hossein; Bahari, Gholamreza

    2018-01-22

    Nonsyndromic cleft lip with or without cleft palate is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors has been indicated to be related with susceptibility to nonsyndromic cleft lip with or without cleft palate. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate. In the present study, we aimed to inspect the relationship between WNT3 (rs3809857 and rs9890413), WNT3A (rs752107 and rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and nonsyndromic cleft lip with or without cleft palate in an Iranian population. The present case-control study was carried out on 120 unrelated nonsyndromic cleft lip with or without cleft palate patients and 112 healthy subjects. The variants were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The findings suggest that the rs3809857 polymorphism significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.16, 95% confidence interval = 0.03-0.75, P = 0.020, TT vs GG), recessive (odds ratio = 0.16, 95% confidence interval = 0.03-0.72, P = 0.009, TT vs GG + GT) inheritance models. The rs9890413 variant marginally decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.41, 95% confidence interval = 0.17-0.99, P = 0.047, AG vs AA) model. Regarding C392T variant, the findings revealed that this variant significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.24, 95% confidence interval = 0.10-0.58, P = 0.002, CT vs CC) and allele (odds ratio = 0.26, 95% confidence interval = 0.11-0.62, P = 0.002, T vs C) models. No significant association was observed between the rs752107 and rs3121310 variants

  7. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

    NARCIS (Netherlands)

    Seco, C.Z.; Giese, A.P.; Shafique, S.; Schraders, M.; Oonk, A.M.; Grossheim, M.; Oostrik, J.; Strom, T.; Hegde, R.; WIjk, E. van; Frolenkov, G.I.; Azam, M.; Yntema, H.G.; Free, R.H.; Riazuddin, S.; Verheij, J.B.; Admiraal, R.J.; Qamar, R.; Ahmed, Z.M.; Kremer, H.

    2016-01-01

    Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense variant c.196C>T and compound heterozygous variants, c.[97C>T];[196C>T], were found, respectively, in two unrelated families of Dutch origin.

  8. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

    NARCIS (Netherlands)

    Seco, Celia Zazo; Giese, Arnaud P.; Shafique, Sobia; Schraders, Margit; Oonk, Anne M. M.; Grossheim, Mike; Oostrik, Jaap; Strom, Tim; Hegde, Rashmi; van Wijk, Erwin; Frolenkov, Gregory I.; Azam, Maleeha; Yntema, Helger G.; Free, Rolien H.; Riazuddin, Saima; Verheij, Joke B. G. M.; Admiraal, Ronald J.; Qamar, Raheel; Ahmed, Zubair M.; Kremer, Hannie

    Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense variant c.196C>T and compound heterozygous variants, c.[97C>T];[196C>T], were found, respectively, in two unrelated families of Dutch origin.

  9. Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Daack-Hirsch, S.; Basart, A.; Frischmeyer, P. [Univ. of Iowa, IA (United States)] [and others

    1994-09-01

    Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP found in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.

  10. Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

    Energy Technology Data Exchange (ETDEWEB)

    Shiang, R. (Univ. of California, Irvine, CA (United States)); Lidral, A.C.; Ardinger, H.H.; Murray, J.C.; Romitti, P.A.; Munger, R.G.; Buetow, K.H.

    1993-10-01

    Genetic analysis and tissue-specific expression studies support a role for transforming growth-factor alpha (TGFA) in craniofacial development. Previous studies have confirmed an association of alleles for TGFA with nonsyndromic cleft lip with or without cleft palate (CL/P) in humans. The authors carried out a retrospective association study to determine whether specific allelic variants of the TGFA gene are also associated with cleft palate only (CPO). The PCR products from 12 overlapping sets of primers to the TGFA cDNA were examined by using single-strand conformational polymorphism analysis. Four DNA polymorphic sites for TGFA were identified in the 3[prime] untranslated region of the TGFA gene. These variants, as well as previously identified RFLPs for TGFA, were characterized in case and control populations for CPO by using X[sup 2] analysis. A significant association between alleles of TGFA and CPO was identified which further supports a role for this gene as one of the genetic determinants of craniofacial development. Sequence analysis of the variants disclosed a cluster of three variable sites within 30 bp of each other in the 3[prime] untranslated region previously associated with an antisense transcript. These studies extend the role for TGFA in craniofacial morphogenesis and support an interrelated mechanism underlying nonsyndromic forms of CL/P. 46 refs., 3 figs., 3 tabs.

  11. A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and Limb-Girdle muscular dystrophy type 2C (LGMD2C)

    Energy Technology Data Exchange (ETDEWEB)

    Guilford, P.; Crozet, F.; Blanchard, S. [Institut Pasteur, Paris (France)] [and others

    1995-09-01

    Two forms of inherited childhood nonsyndromic deafness (DFNB1 and DFNA3) and a Duchenne-like form of progressive muscular dystrophy (LGMD2C) have been mapped to the pericentromeric region of chromosome 13. To clone the genes responsible for these diseases we constructed a yeast artificial chromosome (YAC) contig spanning an 8-cM region between the polymorphic markers D13S221. The contig comprises 24 sequence-tagged sites, among which 15 were newly obtained. This contig allowed us to order the polymorphic markers centromere- D13S175-D13S141-D13S143-D13S115-AFM128yc1-D13S292-D13S283-AFM323vh5-D13S221-telomere. Eight expressed sequence tags, previously assigned to 13q11-q12 (D13S182E, D13S183E, D13S502E, D13S504E, D13S505E, D13S837E, TUBA2, ATP1AL1), were localized on the YAC contig. YAC screening of a cDNA library derived from mouse cochlea allowed us to identify an {alpha}-tubulin gene (TUBA2) that was subsequently precisely mapped within the candidate region. 36 refs., 2 figs., 2 tabs.

  12. Finding new genes for non-syndromic hearing loss through an in silico prioritization study.

    Directory of Open Access Journals (Sweden)

    Matteo Accetturo

    Full Text Available At present, 51 genes are already known to be responsible for Non-Syndromic hereditary Hearing Loss (NSHL, but the knowledge of 121 NSHL-linked chromosomal regions brings to the hypothesis that a number of disease genes have still to be uncovered. To help scientists to find new NSHL genes, we built a gene-scoring system, integrating Gene Ontology, NCBI Gene and Map Viewer databases, which prioritizes the candidate genes according to their probability to cause NSHL. We defined a set of candidates and measured their functional similarity with respect to the disease gene set, computing a score ( S S M avg that relies on the assumption that functionally related genes might contribute to the same (disease phenotype. A Kolmogorov-Smirnov test, comparing the pair-wise distribution on the disease gene set with the distribution on the remaining human genes, provided a statistical assessment of this assumption. We found at a p-value 0.99. The twenty top-scored genes were finally examined to evaluate their possible involvement in NSHL. We found that half of them are known to be expressed in human inner ear or cochlea and are mainly involved in remodeling and organization of actin formation and maintenance of the cilia and the endocochlear potential. These findings strongly indicate that our metric was able to suggest excellent NSHL candidates to be screened in patients and controls for causative mutations.

  13. Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate

    DEFF Research Database (Denmark)

    Beaty, Terri H; Ruczinski, Ingo; Murray, Jeffrey C

    2011-01-01

    Nonsyndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome-wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international...... consortium. Family-based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consumption, and multivitamin supplementation) were used in a combined 2 df test for gene (G) and gene-environment (G × E) interaction simultaneously, plus...... multiple SNPs associated with higher risk of CP in the presence of maternal smoking. Additional evidence of reduced risk due to G × E interaction in the presence of multivitamin supplementation was observed for SNPs in BAALC on chr. 8. These results emphasize the need to consider G × E interaction when...

  14. Deafness genes in Israel: implications for diagnostics in the clinic.

    Science.gov (United States)

    Brownstein, Zippora; Avraham, Karen B

    2009-08-01

    The identification of the molecular basis of deafness in the last decade has made a remarkable impact on genetic counseling and diagnostics for the hearing impaired population. Since the discovery of the most prevalent form of deafness associated with mutations in the GJB2 (connexin 26) gene, many other genes have been found worldwide, with a subset of these, including unique mutations, in Israel. Here, we review the current status of deafness genes in Israel and report one known mutation in a syndromic form of deafness, Usher syndrome, described in the Jewish Israeli population for the first time. In the future, the identification of specific mutations may be relevant for specific types of treatment.

  15. Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting

    DEFF Research Database (Denmark)

    Chen, Neng; Tranebjærg, Lisbeth; Rendtorff, Nanna Dahl

    2011-01-01

    Pendred syndrome and DFNB4 (autosomal recessive nonsyndromic congenital deafness, locus 4) are associated with autosomal recessive congenital sensorineural hearing loss and mutations in the SLC26A4 gene. Extensive allelic heterogeneity, however, necessitates analysis of all exons and splice sites...

  16. MSX ₁ gene variant and non-syndromic clefting: association or rejection?

    Science.gov (United States)

    Reddy, Naveen Admala; Gopinath, Adusumilli; Reddy, Jayaprakash Thirumala; Devanna, Raghu; Saravanan, Pichai; Rohra, Mayur G

    2014-01-01

    Non-syndromic cleft lip/palate (NSCL/P) is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. The aim of this study is to amplify the chosen region (799 G >T) of MSX 1 gene, investigate the degree of association and perform a mutation research from Raichur cleft lip and palate patient sample. Case history and clinical examination of the patient were recorded to rule. Written consent was obtained from patients and controls for in vivo study. STUDY WAS DESIGNED IN FOUR STEPS AS FOLLOWS: a. Collection of a blood sample; b. Genomic deoxyribonucleic acid (DNA) extraction; c. Polymerase chain reaction (PCR); d. Restriction fragment length polymorphism (RFLP). Blood samples were collected from 50 subjects having NSCL/P and 50 controls. Genomic DNA was extracted, PCR and RFLP was performed for digestion products that were evaluated. Chi-square test with P value at 95% confidence intervals. The results showed a positive correlation between MSX 1 799 G >T gene variant and NSCL/P patients in Raichur patients. From a genetically diverse etiology MSX 1 799 G >T gene variant may be a good screening marker for NSCL/P in Raichur patients.

  17. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    Directory of Open Access Journals (Sweden)

    L.T. Souza

    2013-08-01

    Full Text Available Nonsyndromic oral clefts (NSOC are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp, 0.169 (173 bp, 0.096 (171 bp and 0.67 (169 bp. A transmission disequilibrium test with a family-based association test (FBAT software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005. These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

  18. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    Energy Technology Data Exchange (ETDEWEB)

    Souza, L.T. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Programa de Pós-Graduaçãoo em Saúde da Criança e do Adolescente, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Kowalski, T.W. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Collares, M.V.M. [Universidade Federal do Rio Grande do Sul, Departamento de Cirurgia, Porto Alegre, RS, Brasil, Departamento de Cirurgia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Félix, T.M. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Programa de Pós-Graduaçãoo em Saúde da Criança e do Adolescente, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brasil, Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS (Brazil)

    2013-08-10

    Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

  19. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    International Nuclear Information System (INIS)

    Souza, L.T.; Kowalski, T.W.; Collares, M.V.M.; Félix, T.M.

    2013-01-01

    Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil

  20. Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.

    Science.gov (United States)

    Niepokój, Katarzyna; Rygiel, Agnieszka M; Jurczak, Piotr; Kujko, Aleksandra A; Śniegórska, Dominika; Sawicka, Justyna; Grabarczyk, Alicja; Bal, Jerzy; Wertheim-Tysarowska, Katarzyna

    2018-02-01

    Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic. After excluding mutations in the DFNB1 locus, we implemented the next-generation sequencing method and revealed that hearing loss was syndromic and mutations in the USH2A gene indicate Usher syndrome. This research highlights the importance of molecular analysis in establishing a clinical diagnosis of congenital hearing loss.

  1. Investigation of the Matrix Metalloproteinase-2 Gene in Patients with Non-Syndromic Mitral Valve Prolapse

    Directory of Open Access Journals (Sweden)

    Maëlle Perrocheau

    2015-07-01

    Full Text Available Non-syndromic mitral valve prolapse (MVP is a common degenerative valvulopathy, predisposing to arrhythmia and sudden death. The etiology of MVP is suspected to be under genetic control, as supported by familial cases and its manifestation in genetic syndrome (e.g., Marfan syndrome. One candidate etiological mechanism is a perturbation of the extracellular matrix (ECM remodeling of the valve. To test this hypothesis, we assessed the role of genetic variants in the matrix metalloproteinase 2 gene (MMP2 known to regulate the ECM turnover by direct degradation of proteins and for which transgenic mice develop MVP. Direct sequencing of exons of MMP2 in 47 unrelated patients and segregation analyses in families did not reveal any causative mutation. We studied eight common single nucleotide polymorphisms (TagSNPs, which summarize the genetic information at the MMP2 locus. The association study in two case controls sets (NCases = 1073 and NControls = 1635 provided suggestive evidence for the association of rs1556888 located downstream MMP2 with the risk of MVP, especially in patients with the fibroelastic defiency form. Our study does not support the contribution of MMP2 rare variation in the etiology to MVP in humans, though further genetic and molecular investigation is required to confirm our current suggestive association of one common variant.

  2. [Application of MALDI-TOF-MS in gene testing for non-syndromic hearing loss].

    Science.gov (United States)

    Zeng, Yun; Jiang, Dan; Feng, Da-fei; Jin, Dong-dong; Wu, Xiao-hui; Ding, Yan-li; Zou, Jing

    2013-12-01

    To investigate the feasibility of Matrix-Assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS) , according to the genetic test of non-syndromic hearing loss (NSHL), and check using the direct sequencing. Peripheral blood was collected from 454 NSHL patients. DNA samples were extracted and 20 loci of the four common disease-causing genes were analysed by MALDI-TOF-MS, including GJB2 (35delG, 167delT, 176_191del16, 235delC, 299_300delAT ), GJB3 (538C→T, 547G→A), SLC26A4 (281C→T, 589G→A, IVS7-2A→G, 1174A→T, 1226G→A, 1229C→T, IVS15+5G→A, 1975G→C, 2027T→A, 2162C→T, 2168A→G), and mitochondrial 12S rRNA (1494C→T, 1555A→G). Direct sequencing was also used to analyse the aforementioned 20 loci in order to validate the accuracy of MALDI-TOF-MS. Among the 454 patients, 166 cases (36.56%) of disease-causing mutations were detected, which included 69 cases (21.15%) of GJB2 gene mutation, four cases (0.88%) of GJB3 gene mutation, 64 cases (14.10%) of SLC26A4 gene mutation, and three cases (0.66%) of mitochondrial 12S rRNA gene mutation. Moreover, the results obtained from direct sequencing and MALDI-TOF-MS were consistent, and the results showed that the two methods were consistent. The MALDI-TOF-MS detection method was designed based on the hearing loss-related mutation hotspots seen in the Chinese population, and it has a high detection rate for NSHL related mutations. In comparison to the conventional detection methods, MALDI-TOF-MS has the following advantages: more detection sites, greater coverage, accurate, high throughput and low cost. Therefore, this method is capable of satisfying the needs of clinical detection for hearing impairment and it is suitable for large-scale implementation.

  3. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

    DEFF Research Database (Denmark)

    Freude, Kristine; Hoffmann, Kirsten; Jensen, Lars-Riff

    2004-01-01

    Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that approximately 30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening...

  4. A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations.

    Science.gov (United States)

    Pang, Xiuhong; Chai, Yongchuan; He, Longxia; Chen, Penghui; Wang, Xiaowen; Li, Lei; Jia, Huan; Wu, Hao; Yang, Tao

    2015-12-01

    To investigate the genetic cause of the patients with non-syndromic enlarged vestibular aqueduct (EVA) but without bi-allelic SLC26A4 mutations. Presence of a homozygous genomic deletion was detected in a Chinese Han deaf patient (D1467-1) who failed to amplify the first three exons of SLC26A4. The breakpoints of the deletion were fine-mapped and revealed by PCR amplification and sequencing. This deletion was subsequently screened in 22 Chinese Han EVA probands with mono-allelic SLC26A4 mutations. The possible founder effect of the newly identified genomic deletion was evaluated by haplotype analysis. A homozygous c.-2071_307+3801del7666 deletion of SLC26A4 was identified in patient D1467-1. This novel genomic deletion was subsequently identified in 18% (4/22) of the Chinese Han EVA probands with mono-allelic SLC26A4 mutations. Haplotype analysis showed that this genomic deletion is likely a founder mutation in Chinese Hans. Our results suggested that the cryptic c.-2071_307+3801del7666 deletion of SLC26A4 is relatively frequent in Chinese Han non-syndromic EVA patients without bi-allelic SLC26A4 mutations. Screening of this genomic deletion should be incorporated into the routine DNA testing of SLC26A4 in Chinese Hans. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  5. Evidence for gene-environment interaction in a genome wide study of isolated, non-syndromic cleft palate

    Science.gov (United States)

    Beaty, Terri H.; Ruczinski, Ingo; Murray, Jeffrey C.; Marazita, Mary L.; Munger, Ronald G.; Hetmanski, Jacqueline B.; Murray, Tanda; Redett, Richard J.; Fallin, M. Daniele; Liang, Kung Yee; Wu, Tao; Patel, Poorav J.; Jin, Sheng C.; Zhang, Tian Xiao; Schwender, Holger; Wu-Chou, Yah Huei; Chen, Philip K; Chong, Samuel S; Cheah, Felicia; Yeow, Vincent; Ye, Xiaoqian; Wang, Hong; Huang, Shangzhi; Jabs, Ethylin W.; Shi, Bing; Wilcox, Allen J.; Lie, Rolv T.; Jee, Sun Ha; Christensen, Kaare; Doheny, Kimberley F.; Pugh, Elizabeth W.; Ling, Hua; Scott, Alan F.

    2011-01-01

    Non-syndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international consortium. Family based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consumption and multivitamin supplementation) were used in a combined 2 df test for gene (G) and gene-environment (G×E) interaction simultaneously, plus a separate 1 df test for G×E interaction alone. Conditional logistic regression models were used to estimate effects on risk to exposed and unexposed children. While no SNP achieved genome wide significance when considered alone, markers in several genes attained or approached genome wide significance when G×E interaction was included. Among these, MLLT3 and SMC2 on chromosome 9 showed multiple SNPs resulting in increased risk if the mother consumed alcohol during the peri-conceptual period (3 months prior to conception through the first trimester). TBK1 on chr. 12 and ZNF236 on chr. 18 showed multiple SNPs associated with higher risk of CP in the presence of maternal smoking. Additional evidence of reduced risk due to G×E interaction in the presence of multivitamin supplementation was observed for SNPs in BAALC on chr. 8. These results emphasize the need to consider G×E interaction when searching for genes influencing risk to complex and heterogeneous disorders, such as non-syndromic CP. PMID:21618603

  6. Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families

    International Nuclear Information System (INIS)

    Zhu Yi; Qian Yaping; Tang Xiaowen; Wang Jindan; Yang Li; Liao Zhisu; Li Ronghua; Ji Jinzhang; Li Zhiyuan; Chen Jianfu; Choo, Daniel I.; Lu Jianxin; Guan Minxin

    2006-01-01

    We report here the clinical, genetic, and molecular characterization of two Chinese families with aminoglycoside induced and non-syndromic hearing impairment. Clinical and genetic evaluations revealed the variable severity and age-of-onset in hearing impairment in these families. Strikingly, there were extremely low penetrances of hearing impairment in these Chinese families. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical G7444A mutation associated with hearing loss. Indeed, the G7444A mutation in the CO1 gene and the precursor of tRNA Ser(UCN) gene is present in homoplasmy only in the maternal lineage of those pedigrees but not other members of these families and 164 Chinese controls. Their mitochondrial genomes belong to the Eastern Asian haplogroups C5a and D4a, respectively. In fact, the occurrence of the G7444A mutation in these several genetically unrelated subjects affected by hearing impairment strongly indicates that this mutation is involved in the pathogenesis of hearing impairment. However, there was the absence of other functionally significant mtDNA mutations in two Chinese pedigrees carrying the G7444A mutation. Therefore, nuclear modifier gene(s) or aminoglycoside(s) may play a role in the phenotypic expression of the deafness-associated G7444A mutation in these Chinese pedigrees

  7. AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.

    Science.gov (United States)

    Guan, Qiaoning; Balciuniene, Jorune; Cao, Kajia; Fan, Zhiqian; Biswas, Sawona; Wilkens, Alisha; Gallo, Daniel J; Bedoukian, Emma; Tarpinian, Jennifer; Jayaraman, Pushkala; Sarmady, Mahdi; Dulik, Matthew; Santani, Avni; Spinner, Nancy; Abou Tayoun, Ahmad N; Krantz, Ian D; Conlin, Laura K; Luo, Minjie

    2018-03-29

    PurposeHereditary hearing loss is highly heterogeneous. To keep up with rapidly emerging disease-causing genes, we developed the AUDIOME test for nonsyndromic hearing loss (NSHL) using an exome sequencing (ES) platform and targeted analysis for the curated genes.MethodsA tiered strategy was implemented for this test. Tier 1 includes combined Sanger and targeted deletion analyses of the two most common NSHL genes and two mitochondrial genes. Nondiagnostic tier 1 cases are subjected to ES and array followed by targeted analysis of the remaining AUDIOME genes.ResultsES resulted in good coverage of the selected genes with 98.24% of targeted bases at >15 ×. A fill-in strategy was developed for the poorly covered regions, which generally fell within GC-rich or highly homologous regions. Prospective testing of 33 patients with NSHL revealed a diagnosis in 11 (33%) and a possible diagnosis in 8 cases (24.2%). Among those, 10 individuals had variants in tier 1 genes. The ES data in the remaining nondiagnostic cases are readily available for further analysis.ConclusionThe tiered and ES-based test provides an efficient and cost-effective diagnostic strategy for NSHL, with the potential to reflex to full exome to identify causal changes outside of the AUDIOME test.Genetics in Medicine advance online publication, 29 March 2018; doi:10.1038/gim.2018.48.

  8. [Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate].

    Science.gov (United States)

    Zhang, Li; Tang, Jun-Ling; Liang, Shang-Zheng

    2008-06-01

    Muscle segment homeobox gene (MSX)1 has been proposed as a gene in which mutations may contribute to nonsyndromic cleft lip with or without cleft palate (NSCL/P). To study MSX1 polymorphisms in NSCL/ P by means of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP), and investigate the association of MSX1 exons 1 polymorphisms with NSCL/P. DNA were extracted from blood samples from NSCL/P and unrelated normal subjects. Genome DNA from peripheral leukocyte with these blood samples were extracted, which was used as template to amplify desired gene fragment of MSX1 exons 1 by means of polymerase chain reaction (PCR). The PCR products were examined by single-strand conformation polymorphism (SSCP). The MSX1 exons 1 polymorphisms were examined by sequencing if mutations were found. MSX1 genes of exon 1 mutation was not been found in the NSCL/P and unrelated normal subjects by SSCP. No correlation between MSX1 exon 1 and NSCL/P was found. MSX1 exon 1 may not be a key gene (susceptibility gene) in NSCL/P.

  9. Possible linkage of non-syndromic cleft lip and palate to the MSX1 homebox gene on chromosome 4p

    Energy Technology Data Exchange (ETDEWEB)

    Wang, S.; Walczak, C.; Erickson, R.P.

    1994-09-01

    The MSX1 (HOX7) gene has been shown recently to cause cleft palate in a mouse model deficient for its product. Several features of this mouse model make the human homolog of this gene an excellent candidate for non-syndromic cleft palate. We tested this hypothesis by linkage studies in two large multiplex human families using a microsatellite marker in the human MSX1 gene. A LOD score of 1.7 was obtained maximizing at a recombination fraction of 0.09. Computer simulation power calculations using the program SIMLINK indicated that a LOD score this large is expected to occur only about 1/200 times by chance alone for a marker locus with comparable informativeness if unlinked to the disease gene. This suggestive finding is being followed up by attempts to recruit and study additional families and by DNA sequence analyses of the MSX1 gene in these families and other cleft lip and/or cleft palate subjects and these further results will also be reported.

  10. Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.

    Directory of Open Access Journals (Sweden)

    Douglas C Bittel

    Full Text Available Tetralogy of Fallot (TOF is one of the most common severe congenital heart malformations. Great progress has been made in identifying key genes that regulate heart development, yet approximately 70% of TOF cases are sporadic and nonsyndromic with no known genetic cause. We created an ultra high-resolution gene centric comparative genomic hybridization (gcCGH microarray based on 591 genes with a validated association with cardiovascular development or function. We used our gcCGH array to analyze the genomic structure of 34 infants with sporadic TOF without a deletion on chromosome 22q11.2 (n male = 20; n female = 14; age range of 2 to 10 months. Using our custom-made gcCGH microarray platform, we identified a total of 613 copy number variations (CNVs ranging in size from 78 base pairs to 19.5 Mb. We identified 16 subjects with 33 CNVs that contained 13 different genes which are known to be directly associated with heart development. Additionally, there were 79 genes from the broader list of genes that were partially or completely contained in a CNV. All 34 individuals examined had at least one CNV involving these 79 genes. Furthermore, we had available whole genome exon arrays from right ventricular tissue in 13 of our subjects. We analyzed these for correlations between copy number and gene expression level. Surprisingly, we could detect only one clear association between CNVs and expression (GSTT1 for any of the 591 focal genes on the gcCGH array. The expression levels of GSTT1 were correlated with copy number in all cases examined (r = 0.95, p = 0.001. We identified a large number of small CNVs in genes with varying associations with heart development. Our results illustrate the complexity of human genome structural variation and underscore the need for multifactorial assessment of potential genetic/genomic factors that contribute to congenital heart defects.

  11. Linkage study of nonsyndromic cleft lip with or without cleft palate using candidate genes and mapped polymorphic markers

    Energy Technology Data Exchange (ETDEWEB)

    Stein, J.D.; Nelson, L.D.; Conner, B.J. [Univ. of Texas, Houston (United States)] [and others

    1994-09-01

    Nonsyndromic cleft lip with or without cleft palate (CL(P)) involves fusion or growth failure of facial primordia during development. Complex segregation analysis of clefting populations suggest that an autosomal dominant gene may play a role in this common craniofacial disorder. We have ascertained 16 multigenerational families with CL(P) and tested linkage to 29 candidate genes and 139 mapped short tandem repeat markers. The candidate genes were selected based on their expression in craniofacial development or were identified through murine models. These include: TGF{alpha}, TGF{beta}1, TGF{beta}2, TGF{beta}3, EGF, EGFR, GRAS, cMyc, FGFR, Jun, JunB, PDFG{alpha}, PDGF{beta}, IGF2R, GCR Hox7, Hox8, Hox2B, twirler, 5 collagen and 3 extracellular matrix genes. Linkage was tested assuming an autosomal dominant model with sex-specific decreased penetrance. Linkage to all of the candidate loci was excluded in 11 families. RARA was tested and was not informative. However, haplotype analysis of markers flanking RARA on 17q allowed exclusion of this candidate locus. We have previously excluded linkage to 61 STR markers in 11 families. Seventy-eight mapped short tandem repeat markers have recently been tested in 16 families and 30 have been excluded. The remaining are being analyzed and an exclusion map is being developed based on the entire study results.

  12. SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct

    Directory of Open Access Journals (Sweden)

    Zhao Jiandong

    2012-05-01

    Full Text Available Abstract Background Many patients with enlarged vestibular aqueduct (EVA have either only one allelic mutant of the SLC26A4 gene or lack any detectable mutation. In this study, multiplex ligation-dependent probe amplification (MLPA was used to screen for copy number variations (CNVs of SLC26A4 and to reveal the pathogenic mechanisms of non-syndromic EVA (NSEVA. Methods Between January 2003 and March 2010, 923 Chinese patients (481 males, 442 females with NSEVA were recruited. Among these, 68 patients (7.4% were found to carry only one mutant allele of SLC26A4 and 39 patients (4.2% lacked any detectable mutation in SLC26A4; these 107 patients without double mutant alleles were assigned to the patient group. Possible copy number variations in SLC26A4 were detected by SALSA MLPA. Results Using GeneMapper, no significant difference was observed between the groups, as compared with the standard probe provided in the assay. The results of the capillary electrophoresis showed no significant difference between the patients and controls. Conclusion Our results suggest that CNVs and the exon deletion in SLC26A4 are not important factors in NSEVA. However, it would be premature to conclude that CNVs have no role in EVA. Genome-wide studies to explore CNVs within non-coding regions of the SLC26A4 gene and neighboring regions are warranted, to elucidate their roles in NSEVA etiology.

  13. Whose Deaf Genes Are They Anyway?: The Deaf Community's Challenge to Legislation on Embryo Selection

    Science.gov (United States)

    Emery, Steven D.; Middleton, Anna; Turner, Graham H.

    2010-01-01

    This article centers on the implications of genetic developments (as a scientific and technological discipline) for those Deaf people who identify as a cultural and linguistic minority group and are concerned with the preservation and development of sign language and Deaf culture. We explore the impact of one particular legislative initiative that…

  14. Neurotrophin gene therapy for sustained neural preservation after deafness.

    Science.gov (United States)

    Atkinson, Patrick J; Wise, Andrew K; Flynn, Brianna O; Nayagam, Bryony A; Hume, Clifford R; O'Leary, Stephen J; Shepherd, Robert K; Richardson, Rachael T

    2012-01-01

    The cochlear implant provides auditory cues to profoundly deaf patients by electrically stimulating the residual spiral ganglion neurons. These neurons, however, undergo progressive degeneration after hearing loss, marked initially by peripheral fibre retraction and ultimately culminating in cell death. This research aims to use gene therapy techniques to both hold and reverse this degeneration by providing a sustained and localised source of neurotrophins to the deafened cochlea. Adenoviral vectors containing green fluorescent protein, with or without neurotrophin-3 and brain derived neurotrophic factor, were injected into the lower basal turn of scala media of guinea pigs ototoxically deafened one week prior to intervention. This single injection resulted in localised and sustained gene expression, principally in the supporting cells within the organ of Corti. Guinea pigs treated with adenoviral neurotrophin-gene therapy had greater neuronal survival compared to contralateral non-treated cochleae when examined at 7 and 11 weeks post injection. Moreover; there was evidence of directed peripheral fibre regrowth towards cells expressing neurotrophin genes after both treatment periods. These data suggest that neurotrophin-gene therapy can provide sustained protection of spiral ganglion neurons and peripheral fibres after hearing loss.

  15. Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.

    Directory of Open Access Journals (Sweden)

    Hong Wu

    Full Text Available The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China.We developed a microarray to detect 240 mutations underlying syndromic and nonsyndromic sensorineural hearing loss. The microarray was then used for analysis of 382 patients with nonsyndromic sensorineural hearing loss (including 15 patients with enlarged vestibular aqueduct syndrome, 21 patients with Waardenburg syndrome, and 60 unrelated controls. Subsequently, we analyzed the sensitivity, specificity, and reproducibility of this new approach after Sanger sequencing-based verification, and also determined the contribution of the genes on this array to the development of distinct hearing disorders.The sensitivity and specificity of the microarray chip were 98.73% and 98.34%, respectively. Genetic defects were identified in 61.26% of the patients with nonsyndromic sensorineural hearing loss, and 9 causative genes were identified. The molecular etiology was confirmed in 19.05% and 46.67% of the patients with Waardenburg syndrome and enlarged vestibular aqueduct syndrome, respectively.Our new mutation-based microarray comprises an accurate and comprehensive genetic tool for the detection of sensorineural hearing loss. This microarray-based detection method could serve as a first-pass screening (before next-generation-sequencing screening for deafness-causing mutations in China.

  16. Gene-gene interaction between MSX1 and TP63 in Asian case-parent trios with nonsyndromic cleft lip with or without cleft palate.

    Science.gov (United States)

    Liu, Dongjing; Schwender, Holger; Wang, Mengying; Wang, Hong; Wang, Ping; Zhu, Hongping; Zhou, Zhibo; Li, Jing; Wu, Tao; Beaty, Terri H

    2018-03-01

    Small ubiquitin-like modification, also known as sumoylation, is a crucial post-translational regulatory mechanisms involved in development of the lip and palate. Recent studies reported two sumoylation target genes, MSX1 and TP63, to have achieved genome-wide level significance in tests of association with nonsyndromic clefts. Here, we performed a candidate gene analysis considering gene-gene and gene-environment interaction for SUMO1, MSX1, and TP63 to further explore the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P). A total of 130 single-nucleotide polymorphisms (SNPs) in or near SUMO1, MSX1, and TP63 was analyzed among 1,038 Asian NSCL/P trios ascertained through an international consortium. Conditional logistic regression models were used to explore gene-gene (G × G) and gene-environment (G × E) interaction involving maternal environmental tobacco smoke and multivitamin supplementation. Bonferroni correction was used for G × E analysis and permutation tests were used for G × G analysis. While transmission disequilibrium tests and gene-environment interaction analysis showed no significant results, we did find signals of gene-gene interaction between SNPs near MSX1 and TP63. Three pairwise interactions yielded significant p values in permutation tests (rs884690 and rs9290890 with p = 9.34 × 10 -5 and empirical p = 1.00 × 10 -4 , rs1022136 and rs4687098 with p = 2.41 × 10 -4 and empirical p = 2.95 × 10 -4 , rs6819546 and rs9681004 with p = 5.15 × 10 -4 and empirical p = 3.02 × 10 -4 ). Gene-gene interaction between MSX1 and TP63 may influence the risk of NSCL/P in Asian populations. Our study provided additional understanding of the genetic etiology of NSCL/P and underlined the importance of considering gene-gene interaction in the etiology of this common craniofacial malformation. © 2018 Wiley Periodicals, Inc.

  17. [Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia)].

    Science.gov (United States)

    Barashkov, N A; Dzhemileva, L U; Fedorova, S A; Maksimova, N R; Khusnutdinova, E K

    2008-01-01

    The aim of the study was to elucidate the causes of hereditary non-syndromic loss of hearing, a frequent monogene pathology in the Republic of Sakha (Yakutia). A search for mutations in the coding sequence of the connexin 26 gene gap-junction B2 (GJB2) was undertaken in 79 members of 65 unrelated families with the diagnosis of grade III-IV non-syndromic bilateral sensorineural loss of hearing. Five recessive mutations (35delG, V371, 312-326del14, 333-334delAA, R127H) and three polymorphic variants (V271, M34T, E114G) were identified in Yakut patients. Mutations 35delG (41.7%), 312-326dell4 (4.2%), and 333-334delAA (4.2%) were found in Caucasian patients (Russians, Ukrainians, Inguish). Yakuts were carriers of mutations 35delG (2.1%), V371 (2.1%), R127H (1.0%) and sequence variants V271 (6.3%), M34T (1.0%), E114G (1.0%). GJB2 mutations were identified in 50.1% of the Caucasian patients and in 7.2% of the Yakut patients. The low frequency of GJB2 mutations in Yakuts with non-syndromic sensorineural loss of hearing testifies to the presence of mutations of other genes controlling sound perception in this population.

  18. Novel mutation of GATA4 gene in Kurdish population of Iran with nonsyndromic congenital heart septals defects.

    Science.gov (United States)

    Soheili, Fariborz; Jalili, Zahra; Rahbar, Mahtab; Khatooni, Zahed; Mashayekhi, Amir; Jafari, Hossein

    2018-03-01

    The mutations in GATA4 gene induce inherited atrial and ventricular septation defects, which is the most frequent forms of congenital heart defects (CHDs) constituting about half of all cases. We have performed High resolution melting (HRM) mutation scanning of GATA4 coding exons of nonsyndrome 100 patients as a case group including 39 atrial septal defects (ASD), 57 ventricular septal defects (VSD) and four patients with both above defects and 50 healthy individuals as a control group. Our samples are categorized according to their HRM graph. The genome sequencing has been done for 15 control samples and 25 samples of patients whose HRM analysis were similar to healthy subjects for each exon. The PolyPhen-2 and MUpro have been used to determine the causative possibility and structural stability prediction of GATA4 sequence variation. The HRM curve analysis exhibit that 21 patients and 3 normal samples have deviated curves for GATA4 coding exons. Sequencing analysis has revealed 12 nonsynonymous mutations while all of them resulted in stability structure of protein 10 of them are pathogenic and 2 of them are benign. Also we found two nucleotide deletions which one of them was novel and one new indel mutation resulting in frame shift mutation, and 4 synonymous variations or polymorphism in 6 of patients and 3 of normal individuals. Six or about 50% of these nonsynonymous mutations have not been previously reported. Our results show that there is a spectrum of GATA4 mutations resulting in septal defects. © 2018 Wiley Periodicals, Inc.

  19. Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

    Science.gov (United States)

    Seyedahmadi, Babak Jian; Rivolta, Carlo; Keene, Julia A; Berson, Eliot L; Dryja, Thaddeus P

    2004-08-01

    A screen of the entire coding region of the USH2A gene in 129 unrelated patients with Usher syndrome type II (USH2) and in 146 unrelated patients with non-syndromic autosomal recessive retinitis pigmentosa (ARRP) uncovered 54 different sequence variations, including 18 likely pathogenic mutations (13 frameshift, three nonsense, and two missense), 12 changes of uncertain pathogenicity (11 missense changes and one in-frame deletion), and 24 non-pathogenic rare variants or polymorphisms. Of the 18 likely pathogenic mutations, nine were novel. Among the USH2 patients, 50 (39%) had one or two likely pathogenic mutations. The most common mutant allele in USH2 patients was E767fs, which was found in 29 patients, including one homozygote. Among the ARRP patients, we found 17 (12%) with one or two likely pathogenic mutations. The most common mutant allele in ARRP patients was C759F and it was found in 10 patients. The C759F allele was also found in two USH2 patients; in neither of them was a change in the other allele found. The second most common mutant allele in both patient groups was L1447fs (found in 6/50 USH2 patients and 6/17 ARRP patients). Of the 50+17=67 patients with identified USH2A mutations, only one mutation in one allele was found in 41+12=53 (79%); the reason for the high proportion of patients with only one identified mutation is obscure. Our results indicate that USH2A mutations are found in about 7% of all cases of RP in North America, a frequency similar to the RPGR gene (8%) and the rhodopsin gene (10%).

  20. Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.

    Science.gov (United States)

    Wang, Yirui; Sun, Yimin; Huang, Yongqing; Pan, Yongchu; Jia, Zhonglin; Ma, Lijuan; Ma, Lan; Lan, Feifei; Zhou, Yuxi; Shi, Jiayu; Yang, Xiong; Zhang, Lei; Jiang, Hongbing; Jiang, Min; Yin, Aihua; Cheng, Jing; Wang, Lin; Yang, Yinxue; Shi, Bing

    2016-08-15

    Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects worldwide and is characterized by abnormalities of the orofacial structure. Syndromic CL/P is mainly caused by Mendelian disorders such as Van der Woude Syndrome (VWS). However, >70% of CL/P cases are nonsyndromic, characterized by isolated orofacial cleft without any known syndrome. The etiology of nonsyndromic CL/P (NSCL/P) remains elusive, but it has been suggested that causative genes of syndromic CL/P might also contribute to NSCL/P. As such, the VWS causative gene IRF6 has been extensively studied in NSCL/P. Recently, GRHL3 was identified as another VWS causative gene. Thus, it may be a novel candidate gene for NSCL/P. In the present study, we genotyped 10 tag SNPs covering GRHL3 and performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our preliminary results identified rs10903078, rs4638975, and a haplotype rs10903078-rs6659209 of GRHL3 that exceeded the significance threshold (p<0.05), though none survived Bonferroni correction for multiple comparisons. As the first study between GRHL3 and NSCL/P, the contribution of this gene to NSCL/P etiology should be interpreted with caution based on existing evidence. Further, the robustness of association between GRHL3 and NSCL/P should be further validated in expanded cohorts. Copyright © 2016. Published by Elsevier B.V.

  1. Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

    Science.gov (United States)

    Khordadpoor-Deilamani, Faravareh; Akbari, Mohammad Taghi; Karimipoor, Morteza; Javadi, Gholam Reza

    2016-05-01

    Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented hair, skin and eyes. It is associated with decreased visual acuity, nystagmus, strabismus and photophobia. Six genes are known to be involved in nonsyndromic oculocutaneous albinism (OCA). In this study, we aimed to find the disease causing mutations in albinism patients using homozygosity mapping. Twenty three unrelated patients with nonsyndromic OCA or autosomal recessive ocular albinism were recruited in this study. All of the patients' parents had consanguineous marriage and all were screened for TYR mutations previously. At first, we performed homozygosity mapping using fluorescently labeled primers to amplify a novel panel of 13 STR markers inside the OCA genes and then the screened loci in each family were studied using PCR and cycle sequencing methods. We found five mutations including three mutations in OCA2, one mutation in SLC45A2 and one mutation in C10ORF11 genes, all of which were novel. In cases where the disease causing mutations are identical by descent due to a common ancestor, these STR markers can enable us to screen for the responsible genes.

  2. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

    Science.gov (United States)

    McGee, Terri L; Seyedahmadi, Babak Jian; Sweeney, Meredith O; Dryja, Thaddeus P; Berson, Eliot L

    2010-07-01

    Usher syndrome type II (USH2) is an autosomal recessive disorder characterised by retinitis pigmentosa (RP) and mild to moderate sensorineural hearing loss. Mutations in the USH2A gene are the most common cause of USH2 and are also a cause of some forms of RP without hearing loss (ie, non-syndromic RP). The USH2A gene was initially identified as a transcript comprised of 21 exons but subsequently a longer isoform containing 72 exons was identified. The 51 exons unique to the long isoform of USH2A were screened for mutations among a core set of 108 patients diagnosed with USH2 and 80 patients with non-syndromic RP who were all included in a previously reported screen of the short isoform of USH2A. For several exons, additional patients were screened. In total, 35 deleterious mutations were identified including 17 nonsense mutations, 9 frameshift mutations, 5 splice-site mutations, and 4 small in-frame deletions or insertions. Twenty-seven mutations were novel. In addition, 65 rare missense changes were identified. A method of classifying the deleterious effect of the missense changes was developed using the summed results of four different mutation assessment algorithms, SIFT, pMUT, PolyPhen, and AGVGD. This system classified 8 of the 65 changes as 'likely deleterious' and 9 as 'possibly deleterious'. At least one mutation was identified in 57-63% of USH2 cases and 19-23% of cases of non-syndromic recessive RP (calculated without and including probable/possible deleterious changes) thus supporting that USH2A is the most common known cause of RP in the USA.

  3. Analysis of common deafness gene mutations in deaf people from unique ethnic groups in Gansu Province, China.

    Science.gov (United States)

    Xu, Bai-Cheng; Bian, Pan-Pan; Liu, Xiao-Wen; Zhu, Yi-Ming; Yang, Xiao-Long; Ma, Jian-Li; Chen, Xing-Jian; Wang, Yan-Li; Guo, Yu-Fen

    2014-09-01

    The GJB2 gene mutation characteristic of Dongxiang was the interaction result of ethnic background and geographical environment, and Yugur exhibited the typical founder effect. The SLC26A4 gene mutation characteristic of Dongxiang was related to caucasian backgrounds and selection of purpose exons, i.e. ethnic background and the penetrance of ethnic specificity caused the low mtDNA1555A>G mutation frequency in Dongxiang. To determine the prevalence of GJB2 and SLC26A4 genes and mtDNA1555A>G mutations and analyze the ethnic specificity in the non-syndromic sensorineural hearing loss (NSHL) of unique ethnic groups in Gansu Province. Peripheral blood samples were obtained from Dongxiang, Yugur, Bonan, and ethnic Han groups with moderately severe to profound NSHL in Gansu Province. Bidirectional sequencing (or enzyme digestion) was applied to identify the sequence variations. The pathogenic allele frequency of the three gene mutations was different. The frequency of the GJB2 gene among the Dongxiang, Yugur, Bonan, and ethnic Han groups was 9.03%, 12.5%, 5.88%, and 12.17%, respectively. No difference was found between the ethnic groups. The frequencies of the SLC26A4 genes were 3.23%, 8.33%, 0%, and 9.81%, respectively. The mutation frequency of mtDNA1555A>G was 0%, 0%, 0%, and 6.03%, respectively. No difference was found between the ethnic groups, except for the Dongxiang and ethnic Han groups, both in SLC26A4 gene and mtDNA1555A>G.

  4. A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

    Science.gov (United States)

    Cesca, Federica; Bettella, Elisa; Polli, Roberta; Cama, Elona; Scimemi, Pietro; Santarelli, Rosamaria; Murgia, Alessandra

    2018-01-01

    This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness. The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives. The proband and all the other hearing impaired members of the family underwent a thorough clinical and audiological evaluation. A new likely pathogenic mutation in the EYA4 gene (c.1154C > T; p.Ser385Leu) was identified in the proband and in her 42-year-old father with post-lingual non-syndromic profound sensorineural hearing loss. The EYA4 mutation was also found in the proband's grandfather and uncle, both showing clinical features of Waardenburg syndrome type 1. A novel pathogenic splice-site mutation (c.321+1G > A) of the PAX3 gene was found to co-segregate with the EYA4 mutation in these two subjects. The identified novel EYA4 mutation can be considered responsible of the hearing loss observed in the proband and her father, while a dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations. In these two subjects the DFNA10 phenotype was masked by Waardenburg syndrome. The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic cause of the hearing loss in members of a family in which different forms of autosomal dominant deafness segregate. These results provide precise and especially important prognostic and follow-up information for the future audiologic management in the youngest affected member. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

    Directory of Open Access Journals (Sweden)

    Hong-Yang Wang

    2015-01-01

    Full Text Available Background: There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI, including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI. Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause. This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI. Methods: To decipher the genetic code of a Chinese family (family 686 with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing. These techniques were done on samples obtained from this family over a period of 10 years. Results: We identified a pathogenic missense mutation, c. 2081G>A (p.G694E, in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL. The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members. In one of the two patients, we confirmed that the compound heterozygosity for p.Y136FNx01 and p.G45E in the GJB2 gene may account for the phenotype shown in this patient. Conclusions: We identified the co-occurrence of two genetic causes in family 686. The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL. It is necessary to combine various genes screening methods, especially for some unconventional cases.

  6. Computational analysis of TRAPPC9: candidate gene for autosomal recessive non-syndromic mental retardation.

    Science.gov (United States)

    Khattak, Naureen Aslam; Mir, Asif

    2014-01-01

    Mental retardation (MR)/ intellectual disability (ID) is a neuro-developmental disorder characterized by a low intellectual quotient (IQ) and deficits in adaptive behavior related to everyday life tasks such as delayed language acquisition, social skills or self-help skills with onset before age 18. To date, a few genes (PRSS12, CRBN, CC2D1A, GRIK2, TUSC3, TRAPPC9, TECR, ST3GAL3, MED23, MAN1B1, NSUN1) for autosomal-recessive forms of non syndromic MR (NS-ARMR) have been identified and established in various families with ID. The recently reported candidate gene TRAPPC9 was selected for computational analysis to explore its potentially important role in pathology as it is the only gene for ID reported in more than five different familial cases worldwide. YASARA (12.4.1) was utilized to generate three dimensional structures of the candidate gene TRAPPC9. Hybrid structure prediction was employed. Crystal Structure of a Conserved Metalloprotein From Bacillus Cereus (3D19-C) was selected as best suitable template using position-specific iteration-BLAST. Template (3D19-C) parameters were based on E-value, Z-score and resolution and quality score of 0.32, -1.152, 2.30°A and 0.684 respectively. Model reliability showed 93.1% residues placed in the most favored region with 96.684 quality factor, and overall 0.20 G-factor (dihedrals 0.06 and covalent 0.39 respectively). Protein-Protein docking analysis demonstrated that TRAPPC9 showed strong interactions of the amino acid residues S(253), S(251), Y(256), G(243), D(131) with R(105), Q(425), W(226), N(255), S(233), its functional partner 1KBKB. Protein-protein interacting residues could facilitate the exploration of structural and functional outcomes of wild type and mutated TRAPCC9 protein. Actively involved residues can be used to elucidate the binding properties of the protein, and to develop drug therapy for NS-ARMR patients.

  7. [Cochlear implantation in a child with congenital sensorineural deafness due to 35 DELG mutation in GJB2 (connexin 26) gene].

    Science.gov (United States)

    Teriutin, F M; Barashkov, N A; Dzhemileva, L U; Posukh, O L; Fedotova, E E; Gurinova, E E; Fedorova, S A; Tavartkiladze, G A; Khusnutdinova, E K

    2009-01-01

    This paper reports the first case of cochlear implantation performed in this country in a child with congenital non-syndromic sensorineural loss of hearing having hereditary etiology and attributable to autosomal-recessive 35 delG mutation in locus DFNB1 (13q.11-q12) of GJB2 (connexin 26) gene.

  8. Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene.

    Science.gov (United States)

    Kim, Juwon; Jung, Jinsei; Lee, Min Goo; Choi, Jae Young; Lee, Kyung-A

    2015-06-19

    GJB2 alleles containing two cis mutations have been rarely found in non-syndromic hearing loss. Herein, we present a Korean patient with non-syndromic hearing loss caused by the R75Q cis mutation with V37I, which arose de novo in the father and was inherited by the patient. Biochemical coupling and hemichannel permeability assays were performed after molecular cloning and transfection of HEK293T cells. Student's t-tests or analysis of variance followed by Tukey's multiple comparison test was used as statistical analysis. Biochemical coupling was significantly reduced in connexin 26 (Cx26)-R75Q- and Cx26-V37I-transfected cells, with greater extent in Cx26-R75Q and Cx26-R75Q+V37I cells. Interestingly, our patient and his father with the mutations had more residual hearing compared with patients with the dominant mutation alone. Although the difference in hemichannel activity between R75Q alone and R75Q in combination with V37I failed to reach significance, it is of note that there is a possibility that V37I located upstream of R75Q might have the ability to ameliorate R75Q expression. Our study emphasizes the importance of cis mutations with R75Q, as the gene effect of R75Q can be modulated depending on the type of additional mutation.

  9. Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

    Science.gov (United States)

    Riahi, Zied; Bonnet, Crystel; Zainine, Rim; Lahbib, Saida; Bouyacoub, Yosra; Bechraoui, Rym; Marrakchi, Jihène; Hardelin, Jean-Pierre; Louha, Malek; Largueche, Leila; Ben Yahia, Salim; Kheirallah, Moncef; Elmatri, Leila; Besbes, Ghazi; Abdelhak, Sonia; Petit, Christine

    2015-01-01

    Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigmentosa. We performed whole exome sequencing in four unrelated Tunisian patients affected by apparently isolated, congenital profound deafness, with reportedly normal ocular fundus examination. Four biallelic mutations were identified in two USH1 genes: a splice acceptor site mutation, c.2283-1G>T, and a novel missense mutation, c.5434G>A (p.Glu1812Lys), in MYO7A, and two previously unreported mutations in USH1G, i.e. a frameshift mutation, c.1195_1196delAG (p.Leu399Alafs*24), and a nonsense mutation, c.52A>T (p.Lys18*). Another ophthalmological examination including optical coherence tomography actually showed the presence of retinitis pigmentosa in all the patients. Our findings provide evidence that USH is under-diagnosed in Tunisian deaf patients. Yet, early diagnosis of USH is of utmost importance because these patients should undergo cochlear implant surgery in early childhood, in anticipation of the visual loss.

  10. Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

    Directory of Open Access Journals (Sweden)

    Zied Riahi

    Full Text Available Usher syndrome (USH is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3 are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigmentosa. We performed whole exome sequencing in four unrelated Tunisian patients affected by apparently isolated, congenital profound deafness, with reportedly normal ocular fundus examination. Four biallelic mutations were identified in two USH1 genes: a splice acceptor site mutation, c.2283-1G>T, and a novel missense mutation, c.5434G>A (p.Glu1812Lys, in MYO7A, and two previously unreported mutations in USH1G, i.e. a frameshift mutation, c.1195_1196delAG (p.Leu399Alafs*24, and a nonsense mutation, c.52A>T (p.Lys18*. Another ophthalmological examination including optical coherence tomography actually showed the presence of retinitis pigmentosa in all the patients. Our findings provide evidence that USH is under-diagnosed in Tunisian deaf patients. Yet, early diagnosis of USH is of utmost importance because these patients should undergo cochlear implant surgery in early childhood, in anticipation of the visual loss.

  11. [Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia].

    Science.gov (United States)

    Dzhemileva, L U; Posukh, O L; Tazetdinov, A M; Barashkov, N A; Zhuravskiĭ, S G; Ponidelko, S N; Markova, T G; Tadinova, V N; Fedorova, S A; Maksimova, N R; Khusnutdinova, E K

    2009-07-01

    Mitochondrial DNA (mtDNA) mutations play an important role in etiology of hereditary hearing loss. In various regions of the world, patients suffer from nonsyndromic sensorineural hearing loss initiated by aminoglycoside antibiotics. Mutations that had been shown as pathogenetically important for hearing function disturbance were identified in mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes while pathogenic role of several DNA sequences requires additional studies. This work presents the results of studying the spectrum of mutations and polymorphic variations in mtDNA genes 12S rRNA and tRNA(Ser(UGN)) in 410 patients with nonsyndromal sensoneural hearing impairment/loss from the Volga Ural region, St Petersburg, Yakutia, and Altai and in 520 individuals with normal hearing, which represent several ethnic groups (Russians, Tatars, Bashkirs, Yakuts, Altaians) residing in the Russian Federation. Pathogenetically significant mutation A1555G (12S rRNA) was found in two families (from Yakutia and St Peresburg) with hearing loss, probably caused by treatment with aminoglucosides, and in the population sample of Yakuts with a frequency of 0.83%. Further research is needed to confirm the role in hearing impairment of mutations 961insC, 961insC(n), 961delTinsC(n), T961G, T1095C (12S rRNA) and G7444A, A7445C (tRNA(Ser(UGN revealed in the patients. In addition, in the patients and the population groups, polymorphic mt DNA variants were detected, which are characteristic also of other Eurasian populations both in spectrum and frequency.

  12. IRF6 mutation screening in non-syndromic orofacial clefting

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Koboldt, Daniel C; Kang, C. J.

    2016-01-01

    -syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in several modestly sized cohorts with mixed results. In this study, we screened 1521 trios with presumed non......-syndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and non......-syndromic OFCs. We combined our results with other similar studies (totaling 2472 families) and conclude that causal IRF6 mutations are found in 0.24–0.44% of apparently non-syndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families...

  13. A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.

    Science.gov (United States)

    Crimi, M; Galbiati, S; Perini, M P; Bordoni, A; Malferrari, G; Sciacco, M; Biunno, I; Strazzer, S; Moggio, M; Bresolin, N; Comi, G P

    2003-04-08

    We have identified a heteroplasmic G to A mutation at position 12,183 of the mitochondrial transfer RNA Histidine (tRNA(His)) gene in three related patients. These phenotypes varied according to mutation heteroplasmy: one had severe pigmentary retinopathy, neurosensorial deafness, testicular dysfunction, muscle hypotrophy, and ataxia; the other two had only retinal and inner ear involvement. The mutation is in a highly conserved region of the T(psi)C stem of the tRNA(His) gene and may alter secondary structure formation. This is the first described pathogenic, maternally inherited mutation of the mitochondrial tRNA(His) gene.

  14. Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26 in Syrian Patients with Nonsyndromic Hearing Impairment

    Directory of Open Access Journals (Sweden)

    Hazem Kaheel

    2017-01-01

    Full Text Available Background. Hearing impairments (HI are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5–5.4% across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profound sensorineural HI. Methods. We carried out PCR, restriction enzyme based screening, and sequencing of 132 Syrian patients diagnosed clinically with hereditary deafness for different GJB2 mutations. Results. The result revealed that, in GJB2 gene, c.35delG is the most prevalent among affected studied subjects (13.64%, followed by c.457G>A (2.4%. Conclusion. The benefit of this study on the one hand is its first report of prelingual deafness causative gene mutations identified by sequencing technology in the Syrian families. It is obvious from the results that the deployment in biomedical research is highly effective and has a great impact on the ability to uncover the cause of genetic variation in different genetic diseases.

  15. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.

    Science.gov (United States)

    Basel-Vanagaite, L; Attia, R; Yahav, M; Ferland, R J; Anteki, L; Walsh, C A; Olender, T; Straussberg, R; Magal, N; Taub, E; Drasinover, V; Alkelai, A; Bercovich, D; Rechavi, G; Simon, A J; Shohat, M

    2006-03-01

    The molecular basis of autosomal recessive non-syndromic mental retardation (NSMR) is poorly understood, mostly owing to heterogeneity and absence of clinical criteria for grouping families for linkage analysis. Only two autosomal genes, the PRSS12 gene on chromosome 4q26 and the CRBN on chromosome 3p26, have been shown to cause autosomal recessive NSMR, each gene in only one family. To identify the gene causing autosomal recessive NSMR on chromosome 19p13.12. The candidate region established by homozygosity mapping was narrowed down from 2.4 Mb to 0.9 Mb on chromosome 19p13.12. A protein truncating mutation was identified in the gene CC2D1A in nine consanguineous families with severe autosomal recessive NSMR. The absence of the wild type protein in the lymphoblastoid cells of the patients was confirmed. CC2D1A is a member of a previously uncharacterised gene family that carries two conserved motifs, a C2 domain and a DM14 domain. The C2 domain is found in proteins which function in calcium dependent phospholipid binding; the DM14 domain is unique to the CC2D1A protein family and its role is unknown. CC2D1A is a putative signal transducer participating in positive regulation of I-kappaB kinase/NFkappaB cascade. Expression of CC2D1A mRNA was shown in the embryonic ventricular zone and developing cortical plate in staged mouse embryos, persisting into adulthood, with highest expression in the cerebral cortex and hippocampus. A previously unknown signal transduction pathway is important in human cognitive development.

  16. Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

    Science.gov (United States)

    Heidari, Abolfazl; Tongsook, Chanakan; Najafipour, Reza; Musante, Luciana; Vasli, Nasim; Garshasbi, Masoud; Hu, Hao; Mittal, Kirti; McNaughton, Amy J M; Sritharan, Kumudesh; Hudson, Melissa; Stehr, Henning; Talebi, Saeid; Moradi, Mohammad; Darvish, Hossein; Arshad Rafiq, Muhammad; Mozhdehipanah, Hossein; Rashidinejad, Ali; Samiei, Shahram; Ghadami, Mohsen; Windpassinger, Christian; Gillessen-Kaesbach, Gabriele; Tzschach, Andreas; Ahmed, Iltaf; Mikhailov, Anna; Stavropoulos, D James; Carter, Melissa T; Keshavarz, Soraya; Ayub, Muhammad; Najmabadi, Hossein; Liu, Xudong; Ropers, Hans Hilger; Macheroux, Peter; Vincent, John B

    2015-10-15

    Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA, and is the only well-known pathway for termination of neurotransmission actions of HA in mammalian central nervous system. We performed autozygosity mapping followed by targeted exome sequencing and identified two homozygous HNMT alterations, p.Gly60Asp and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability from two unrelated consanguineous families of Turkish and Kurdish ancestry, respectively. We verified the complete absence of a functional HNMT in patients using in vitro toxicology assay. Using mutant and wild-type DNA constructs as well as in silico protein modeling, we confirmed that p.Gly60Asp disrupts the enzymatic activity of the protein, and that p.Leu208Pro results in reduced protein stability, resulting in decreased HA inactivation. Our results highlight the importance of inclusion of HNMT for genetic testing of individuals presenting with intellectual disability. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  17. Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

    Science.gov (United States)

    Heidari, Abolfazl; Tongsook, Chanakan; Najafipour, Reza; Musante, Luciana; Vasli, Nasim; Garshasbi, Masoud; Hu, Hao; Mittal, Kirti; McNaughton, Amy J. M.; Sritharan, Kumudesh; Hudson, Melissa; Stehr, Henning; Talebi, Saeid; Moradi, Mohammad; Darvish, Hossein; Arshad Rafiq, Muhammad; Mozhdehipanah, Hossein; Rashidinejad, Ali; Samiei, Shahram; Ghadami, Mohsen; Windpassinger, Christian; Gillessen-Kaesbach, Gabriele; Tzschach, Andreas; Ahmed, Iltaf; Mikhailov, Anna; Stavropoulos, D. James; Carter, Melissa T.; Keshavarz, Soraya; Ayub, Muhammad; Najmabadi, Hossein; Liu, Xudong; Ropers, Hans Hilger; Macheroux, Peter; Vincent, John B.

    2015-01-01

    Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA, and is the only well-known pathway for termination of neurotransmission actions of HA in mammalian central nervous system. We performed autozygosity mapping followed by targeted exome sequencing and identified two homozygous HNMT alterations, p.Gly60Asp and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability from two unrelated consanguineous families of Turkish and Kurdish ancestry, respectively. We verified the complete absence of a functional HNMT in patients using in vitro toxicology assay. Using mutant and wild-type DNA constructs as well as in silico protein modeling, we confirmed that p.Gly60Asp disrupts the enzymatic activity of the protein, and that p.Leu208Pro results in reduced protein stability, resulting in decreased HA inactivation. Our results highlight the importance of inclusion of HNMT for genetic testing of individuals presenting with intellectual disability. PMID:26206890

  18. Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

    Science.gov (United States)

    Pera, Alejandra; Dossena, Silvia; Rodighiero, Simona; Gandía, Marta; Bottà, Guido; Meyer, Giuliano; Moreno, Felipe; Nofziger, Charity; Hernández-Chico, Concepción; Paulmichl, Markus

    2008-01-01

    Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct (EVA) to Mondini malformation, and deficient iodide organification in the thyroid gland. Nonsyndromic EVA (ns-EVA) is a separate type of sensorineural hearing loss showing normal thyroid function. Both Pendred syndrome and ns-EVA seem to be linked to the malfunction of pendrin (SLC26A4), a membrane transporter able to exchange anions between the cytosol and extracellular fluid. In the past, the pathogenicity of SLC26A4 missense mutations were assumed if the mutations fulfilled two criteria: low incidence of the mutation in the control population and substitution of evolutionary conserved amino acids. Here we show that these criteria are insufficient to make meaningful predictions about the effect of these SLC26A4 variants on the pendrin-induced ion transport. Furthermore, we functionally characterized 10 missense mutations within the SLC26A4 ORF, and consistently found that on the protein level, an addition or omission of a proline or a charged amino acid in the SLC26A4 sequence is detrimental to its function. These types of changes may be adequate for predicting SLC26A4 functionality in the absence of direct functional tests. PMID:19017801

  19. Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

    Science.gov (United States)

    DeMille, Desiree; Carlston, Colleen M; Tam, Oliver H; Palumbos, Janice C; Stalker, Heather J; Mao, Rong; Zori, Roberto T; Viskochil, David H; Park, Albert H; Carey, John C

    2018-04-01

    Connexin 26 (Cx26), encoded by the GJB2 gene, is a key protein involved in the formation of gap junctions in epithelial organs including the inner ear and palmoplantar epidermis. Pathogenic variants in GJB2 are responsible for approximately 50% of inherited sensorineural deafness. The majority of these variants are associated with autosomal recessive inheritance; however, rare reports of dominantly co-segregating variants have been published. Since we began offering GJB2 testing in 2003, only about 2% of detected GJB2 variants from our laboratory have been classified as dominant. Here we report three novel dominant GJB2 variants (p.Thr55Ala, p.Gln57_Pro58delinsHisSer, and p.Trp44Gly); two associated with syndromic sensorineural hearing loss and one with nonsyndromic hearing loss. In the kindred with the p.Thr55Ala variant, the proband and his father present with only leukonychia as a cutaneous finding of their syndromic hearing loss. This phenotype has been previously documented in conjunction with palmoplantar hyperkeratosis, but isolated leukonychia is a novel finding likely associated with the unique threonine to alanine change at codon 55 (other variants at this codon have been reported in cases of nonsyndromic hearing loss). This report contributes to the short list of GJB2 variants associated with autosomal dominant hearing loss, highlights the variability of skin and nail findings associated with such cases, and illustrates the occurrence of both syndromic and nonsyndromic presentations with changes in the same gene. © 2018 Wiley Periodicals, Inc.

  20. Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family

    Directory of Open Access Journals (Sweden)

    Yongheng Duan

    2017-08-01

    Full Text Available Abstract X-linked intellectual disability (XLID has been associated with various genes. Diagnosis of XLID, especially for non-syndromic ones (NS-XLID, is often hampered by the heterogeneity of this disease. Here we report the case of a Chinese family in which three males suffer from intellectual disability (ID. The three patients shared the same phenotype: no typical clinical manifestation other than IQ score ≤ 70. For a genetic diagnosis for this family we carried out whole exome sequencing on the proband, and validated 16 variants of interest in the genomic DNA of all the family members. A missense mutation (c.710G > T, which mapped to exon 6 of the Rab GDP-Dissociation Inhibitor 1 (GDI1 gene, was found segregating with the ID phenotype, and this mutation changes the 237th position in the guanosine diphosphate dissociation inhibitor (GDI protein from glycine to valine (p. Gly237Val. Through molecular dynamics simulations we found that this substitution results in a conformational change of GDI, possibly affecting the Rab-binding capacity of this protein. In conclusion, our study identified a novel GDI1 mutation that is possibly NS-XLID causative, and showed that whole exome sequencing provides advantages for detecting novel ID-associated variants and can greatly facilitate the genetic diagnosis of the disease.

  1. Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.

    Science.gov (United States)

    Tlili, Abdelaziz; Al Mutery, Abdullah; Kamal Eddine Ahmad Mohamed, Walaa; Mahfood, Mona; Hadj Kacem, Hassen

    2017-11-01

    Mutations in the gap junction protein beta 2 (GJB2) gene are responsible for more cases of nonsyndromic recessive hearing loss than any other gene. The purpose of our study was to evaluate the prevalence of GJB2 mutations among affected individuals from United Arab Emirates (UAE). There were 50 individuals diagnosed with hereditary hearing loss and 120 healthy individuals enrolled in the study. The Sanger sequencing method was used to screen the GJB2 coding region in all affected individuals. The c.-1G>A variant was determined by the polymerase chain reaction-restriction fragment length polymorphism method in normal individuals. Nine cases with bi-allelic mutations and three cases with mono-allelic mutations were detected in 12 out of 50 patients (24%). The homozygous mutation c.35delG was identified as the cause of hearing loss in six participants (12%). The mutation c.506G>A was identified in three affected individuals (6%). The allelic frequency (14%) and low percentage of individuals that were homozygous (2%) for the c.35delG mutation suggest that there are other genes responsible for nonsyndromic deafness in the UAE population. The results reported here are a preliminary step in collecting epidemiological data regarding autosomal recessive nonsyndromic hearing loss related to GJB2 gene mutations among the UAE population. The c.35delG mutation of the GJB2 gene is the most frequently seen causative mutation in the UAE and is followed by the p.Cys169Tyr mutation.

  2. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

    Directory of Open Access Journals (Sweden)

    Kang Dongyang

    2009-09-01

    Full Text Available Abstract Background Every year, 30,000 babies are born with congenital hearing impairment in China. The molecular etiology of hearing impairment in the Chinese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we performed a comprehensive investigation of the molecular etiology of nonsyndromic deafness in two typical areas from northern and southern China. Methods A total of 284 unrelated school children with hearing loss who attended special education schools in China were enrolled in this study, 134 from Chifeng City in Inner Mongolia and the remaining 150 from Nangtong City in JiangSu Province. Screening was performed for GJB2, GJB3, GJB6, SLC26A4, 12S rRNA, and tRNAser(UCN genes in this population. All patients with SLC26A4 mutations or variants were subjected to high-resolution temporal bone CT scan to verify the enlarged vestibular aqueduct. Results Mutations in the GJB2 gene accounted for 18.31% of the patients with nonsyndromic hearing loss, 1555A>G mutation in mitochondrial DNA accounted for 1.76%, and SLC26A4 mutations accounted for 13.73%. Almost 50% of the patients with nonsyndromic hearing loss in these typical Chinese areas carried GJB2 or SLC26A4 mutations. No significant differences in mutation spectrum or prevalence of GJB2 and SLC26A4 were found between the two areas. Conclusion In this Chinese population, 54.93% of cases with hearing loss were related to genetic factors. The GJB2 gene accounted for the etiology in about 18.31% of the patients with hearing loss, SLC26A4 accounted for about 13.73%, and mtDNA 1555A>G mutation accounted for 1.76%. Mutations in GJB3, GJB6, and mtDNA tRNAser(UCN were not common in this Chinese cohort. Conventionally, screening is performed for GJB2, SLC26A4, and mitochondrial 12S rRNA in the Chinese deaf population.

  3. Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

    Directory of Open Access Journals (Sweden)

    Sathyaprasad Savitha

    2015-01-01

    Full Text Available Background: The bone morphogenetic protein (BMP signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation. Aim: To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P and identify it directly from human analyses. Materials and Methods: A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP. Results: Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99. The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41. Conclusion: This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality.

  4. Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

    Directory of Open Access Journals (Sweden)

    Aparna Ganapathy

    Full Text Available Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromic hearing loss (ARNSHL in India, we examined 374 families with the disorder to identify potential mutations. We found four mutations in TMPRSS3, eight in TMC1, ten in USHIC, eight in CDH23 and three in TMIE. Of the 33 potentially pathogenic variants identified in these genes, 23 were new and the remaining have been previously reported. Collectively, mutations in these five genes contribute to about one-tenth of ARNSHL among the families examined. New mutations detected in this study extend the allelic heterogeneity of the genes and provide several additional variants for structure-function correlation studies. These findings have implications for early DNA-based detection of deafness and genetic counseling of affected families in the Indian subcontinent.

  5. c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.

    Science.gov (United States)

    Safarpour Lima, Behnam; Ghaedi, Hamid; Daftarian, Narsis; Ahmadieh, Hamid; Jamshidi, Javad; Khorrami, Mehdi; Noroozi, Rezvan; Sohrabifar, Nasim; Assarzadegan, Farhad; Hesami, Omid; Taghavi, Shaghayegh; Ahmadifard, Azadeh; Atakhorrami, Minoo; Rahimi-Aliabadi, Simin; Shahmohammadibeni, Neda; Alehabib, Elham; Andarva, Monavvar; Darvish, Hossein; Emamalizadeh, Babak

    2016-02-01

    Wolfram syndrome is one of the rare autosomal recessive, progressive, neurodegenerative disorders, characterized by diabetes mellitus and optic atrophy. Several other features are observed in patients including deafness, ataxia, and peripheral neuropathy. A gene called WFS1 is identified on chromosome 4p, responsible for Wolfram syndrome. We investigated a family consisted of parents and 8 children, which 5 of them have been diagnosed for Wolfram syndrome. WFS1 gene in all family members was sequenced for causative mutations. A mutation (c.376G>A, p.A126T) was found in all affected members in homozygous state and in both parents in heterozygous state. The bioinformatics analysis showed the deleterious effects of this nucleotide change on the structure and function of the protein product. As all of the patients in the family showed the homozygote mutation, and parents were both heterozygote, this mutation is probably the cause of the disease. We identified this mutation in homozygous state for the first time as Wolfram syndrome causation. We also showed that this mutation probably doesn't cause deafness in affected individuals. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  6. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

    Science.gov (United States)

    Bitner-Glindzicz, M; Lindley, K J; Rutland, P; Blaydon, D; Smith, V V; Milla, P J; Hussain, K; Furth-Lavi, J; Cosgrove, K E; Shepherd, R M; Barnes, P D; O'Brien, R E; Farndon, P A; Sowden, J; Liu, X Z; Scanlan, M J; Malcolm, S; Dunne, M J; Aynsley-Green, A; Glaser, B

    2000-09-01

    Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa. It is an autosomal recessive condition and is subdivided on the basis of linkage analysis into types 1A through 1E. Usher type 1C maps to the region containing the genes ABCC8 and KCNJ11 (encoding components of ATP-sensitive K + (KATP) channels), which may be mutated in patients with hyperinsulinism. We identified three individuals from two consanguineous families with severe hyperinsulinism, profound congenital sensorineural deafness, enteropathy and renal tubular dysfunction. The molecular basis of the disorder is a homozygous 122-kb deletion of 11p14-15, which includes part of ABCC8 and overlaps with the locus for Usher syndrome type 1C and DFNB18. The centromeric boundary of this deletion includes part of a gene shown to be mutated in families with type 1C Usher syndrome, and is hence assigned the name USH1C. The pattern of expression of the USH1C protein is consistent with the clinical features exhibited by individuals with the contiguous gene deletion and with isolated Usher type 1C.

  7. Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.

    Science.gov (United States)

    Yoshimura, Hidekane; Miyagawa, Maiko; Kumakawa, Kozo; Nishio, Shin-Ya; Usami, Shin-Ichi

    2016-05-01

    Usher syndrome type 1 (USH1) is the most severe of the three USH subtypes due to its profound hearing loss, absent vestibular response and retinitis pigmentosa appearing at a prepubescent age. Six causative genes have been identified for USH1, making early diagnosis and therapy possible through DNA testing. Targeted exon sequencing of selected genes using massively parallel DNA sequencing (MPS) technology enables clinicians to systematically tackle previously intractable monogenic disorders and improve molecular diagnosis. Using MPS along with direct sequence analysis, we screened 227 unrelated non-syndromic deaf children and detected recessive mutations in USH1 causative genes in five patients (2.2%): three patients harbored MYO7A mutations and one each carried CDH23 or PCDH15 mutations. As indicated by an earlier genotype-phenotype correlation study of the CDH23 and PCDH15 genes, we considered the latter two patients to have USH1. Based on clinical findings, it was also highly likely that one patient with MYO7A mutations possessed USH1 due to a late onset age of walking. This first report describing the frequency (1.3-2.2%) of USH1 among non-syndromic deaf children highlights the importance of comprehensive genetic testing for early disease diagnosis.

  8. Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.

    Science.gov (United States)

    Robitaille, Pierre; Merouani, Aicha; He, Ning; Pei, York

    2011-09-01

    This article describes two sisters with type III Bartter syndrome (BS) due to a novel missense variant of the CLCNKB gene. The phenotypic expression of the disease was very different in these two siblings. In one sister, the disease followed a very severe course, especially in the neonatal period and as a toddler. Both the classic symptoms and the biochemical features of the syndrome were striking. In addition, she presented with sensorineural deafness, a complication yet unreported in this subtype of BS In contrast, the least affected sister was symptom free and the biochemical features of the disease although present remained discrete throughout the prolonged follow-up. It is suggested that such a difference in the phenotypic expression of the disease is possibly secondary to the modifier effect of a gene and/or results from environmental factor(s).

  9. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

    NARCIS (Netherlands)

    Cryns, K; Sivakumaran, TA; Van den Ouweland, JMW; Pennings, RJE; Cremers, CWRJ; Flothmann, K; Young, TL; Smith, RJH; Lesperance, MM; Van Camp, G

    2003-01-01

    WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations in WFS1 underlie autosomal recessive Wolfram syndrome and autosomal dominant low frequency sensorineural hearing impairment (LFSNHI) DFNA6/14. In addition,

  10. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

    NARCIS (Netherlands)

    Cryns, K.; Sivakumaran, T.A.; Ouweland, J.M.W. van den; Pennings, R.J.E.; Cremers, C.W.R.J.; Flothmann, K.; Young, T.L.; Smith, R.J.H.; Lesperance, M.M.; Camp, G. van

    2003-01-01

    WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations in WFS1 underlie autosomal recessive Wolfram syndrome and autosomal dominant low frequency sensorineural hearing impairment (LFSNHI) DFNA6/14. In addition,

  11. Detection of Deafness-Causing Mutations in the Greek Mitochondrial Genome

    Directory of Open Access Journals (Sweden)

    Haris Kokotas

    2011-01-01

    Full Text Available Mitochondrion harbors its own DNA, known as mtDNA, encoding certain essential components of the mitochondrial respiratory chain and protein synthesis apparatus. mtDNA mutations have an impact on cellular ATP production and many of them are undoubtedly a factor that contributes to sensorineural deafness, including both syndromic and non-syndromic forms. Hot spot regions for deafness mutations are the MTRNR1 gene, encoding the 12S rRNA, the MTTS1 gene, encoding the tRNA for Ser(UCN, and the MTTL1 gene, encoding the tRNA for Leu(UUR. We investigated the impact of mtDNA mutations in the Greek hearing impaired population, by testing a cohort of 513 patients suffering from childhood onset prelingual or postlingual, bilateral, sensorineural, syndromic or non-syndromic hearing loss of any degree for six mitochondrial variants previously associated with deafness. Screening involved the MTRNR1 961delT/insC and A1555G mutations, the MTTL1 A3243G mutation, and the MTTS1 A7445G, 7472insC and T7510C mutations. Although two patients were tested positive for the A1555G mutation, we failed to identify any subject carrying the 961delT/insC, A3243G, A7445G, 7472insC, or T7510C mutations. Our findings strongly support our previously raised conclusion that mtDNA mutations are not a major risk factor for sensorineural deafness in the Greek population.

  12. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

    Science.gov (United States)

    Xu, Wenjun; Dai, Hanjun; Lu, Tingting; Zhang, Xiaohui; Dong, Bing; Li, Yang

    2011-01-01

    To describe the clinical and genetic findings in one Chinese family with autosomal recessive retinitis pigmentosa (arRP) and in three unrelated Chinese families with Usher syndrome type II (USH2). One family (FR1) with arRP and three unrelated families (F6, F7, and F8) with Usher syndrome (USH), including eight affected members and seven unaffected family individuals were examined clinically. The study included 100 normal Chinese individuals as normal controls. After obtaining informed consent, peripheral blood samples from all participants were collected and genomic DNA was extracted. Genotyping and haplotyping analyses were performed on the known genetic loci for arRP with a panel of polymorphic markers in family FR1. In all four families, the coding region (exons 2-72), including the intron-exon boundary of the USH2A (Usher syndrome type -2A protein) gene, was screened by PCR and direct DNA sequencing. Whenever substitutions were identified in a patient, a restriction fragment length polymorphism (RFLP) analysis, single strand conformation polymorphism (SSCP) analysis, or high resolution melt curve analysis (HRM) was performed on all available family members and on the 100 normal controls. The affected individuals presented with typical fundus features of retinitis pigmentosa (RP), including narrowing of the vessels, bone-spicule pigmentation, and waxy optic discs. The electroretinogram (ERG) wave amplitudes of the available probands were undetectable. Audiometric tests in the affected individuals in family FR1 were normal, while indicating moderate to severe sensorineural hearing impairment in the affected individuals in families F6, F7, and F8. Vestibular function was normal in all patients from all four families. The disease-causing gene in family FR1 was mapped to the USH2A locus on chromosome 1q41. Seven novel mutations (two missenses, one 7-bp deletion, two small deletions, and two nonsenses) were detected in the four families after sequencing analysis of

  13. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.

    Science.gov (United States)

    Brownstein, Zippora; Ben-Yosef, Tamar; Dagan, Orit; Frydman, Moshe; Abeliovich, Dvorah; Sagi, Michal; Abraham, Fabian A; Taitelbaum-Swead, Riki; Shohat, Mordechai; Hildesheimer, Minka; Friedman, Thomas B; Avraham, Karen B

    2004-06-01

    Usher syndrome is a frequent cause of the combination of deafness and blindness due to retinitis pigmentosa (RP). Five genes are known to underlie different forms of Usher syndrome type I (USH1). In the Ashkenazi Jewish population, the R245X mutation of the PCDH15 gene may be the most common cause of USH1 (Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RK, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB N Engl J Med 348: 1664-1670, 2003). To estimate what percentage of Ashkenazi Jewish children born with profound hearing loss will develop RP due to R245X, we examined the prevalence of the R245X PCDH15 mutation and its carrier rate among Ashkenazi Jews in Israel. Among probands diagnosed with nonsyndromic hearing loss not due to mutations of connexin 26 (GJB2) and/or connexin 30 (GJB6), and below the age of 10, 2 of 20 (10%) were homozygous for the R245X mutation. Among older nonsyndromic deaf individuals, no homozygotes were detected, although one individual was heterozygous for R245X. The carrier rate of the R245X mutation among the normal hearing Ashkenazi population in Israel was estimated at 1%. Ashkenazi Jewish children with profound prelingual hearing loss should be evaluated for the R245X PCDH15 mutation and undergo ophthalmologic evaluation to determine whether they will develop RP. Rehabilitation can then begin before loss of vision. Early use of cochlear implants in such cases may rescue these individuals from a dual neurosensory deficit.

  14. dyschronic, a Drosophila homolog of a deaf-blindness gene, regulates circadian output and Slowpoke channels.

    Directory of Open Access Journals (Sweden)

    James E C Jepson

    Full Text Available Many aspects of behavior and physiology are under circadian control. In Drosophila, the molecular clock that regulates rhythmic patterns of behavior has been extensively characterized. In contrast, genetic loci involved in linking the clock to alterations in motor activity have remained elusive. In a forward-genetic screen, we uncovered a new component of the circadian output pathway, which we have termed dyschronic (dysc. dysc mutants exhibit arrhythmic locomotor behavior, yet their eclosion rhythms are normal and clock protein cycling remains intact. Intriguingly, dysc is the closest Drosophila homolog of whirlin, a gene linked to type II Usher syndrome, the leading cause of deaf-blindness in humans. Whirlin and other Usher proteins are expressed in the mammalian central nervous system, yet their function in the CNS has not been investigated. We show that DYSC is expressed in major neuronal tracts and regulates expression of the calcium-activated potassium channel SLOWPOKE (SLO, an ion channel also required in the circadian output pathway. SLO and DYSC are co-localized in the brain and control each other's expression post-transcriptionally. Co-immunoprecipitation experiments demonstrate they form a complex, suggesting they regulate each other through protein-protein interaction. Furthermore, electrophysiological recordings of neurons in the adult brain show that SLO-dependent currents are greatly reduced in dysc mutants. Our work identifies a Drosophila homolog of a deaf-blindness gene as a new component of the circadian output pathway and an important regulator of ion channel expression, and suggests novel roles for Usher proteins in the mammalian nervous system.

  15. Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

    Science.gov (United States)

    Ammar-Khodja, Fatima; Faugère, Valérie; Baux, David; Giannesini, Claire; Léonard, Susana; Makrelouf, Mohamed; Malek, Rahia; Djennaoui, Djamel; Zenati, Akila; Claustres, Mireille; Roux, Anne-Françoise

    2009-01-01

    A systematic approach, involving haplotyping and genotyping, to the molecular diagnosis of non-syndromic deafness within 50 families and 9 sporadic cases from Algeria is described. Mutations at the DFNB1 locus (encompassing the GJB2 and GJB6 genes) are responsible for more than half of autosomal recessive prelingual non-syndromic deafness in various populations. A c.35delG mutation can account for up to 85% of GJB2 mutations and two large deletions del(GJB6-D13S1830) and del(GJB6-D13S1854) have also been reported in several population groups. In view of the genetic heterogeneity a strategy was developed which involved direct analysis of DFNB1. In negative familial cases, haplotype analysis was carried out, where possible, to exclude DFNB1 mutations. Following this, haplotype analysis of five Usher syndrome loci, sometimes involved in autosomal non-syndromic hearing loss, was carried out to identify cases in which Usher gene sequencing was indicated. When homozygosity was observed at a locus in a consanguineous family, the corresponding gene was exhaustively sequenced. Pathogenic DFNB1 genotypes were identified in 40% of the cases. Of the 21 cases identified with 2 pathogenic mutations, c.35delG represented 76% of the mutated alleles. The additional mutations were one nonsense, two missense and one splicing mutation. Four additional patients were identified with a single DFNB1 mutation. None carried the large deletions. Three families with non-syndromic deafness carried novel unclassified variants (UVs) in MYO7A (1 family) and CDH23 (2 families) of unknown pathogenic effect. Additionally, molecular diagnosis was carried out on two Usher type I families and pathogenic mutations in MYO7A and PCDH15 were found.

  16. [Research progress of mutational spectrum and pathophysiology of WFS1 gene in Wolfram syndrome and nonsyndromic low frequency sensorineural hearing loss].

    Science.gov (United States)

    Shi, S M; Han, Y H; Wang, H B

    2016-09-07

    Compound homozygous or heterozygous mutations in WFS 1 can lead to autosomal recessive Wolfram syndrome (WS), and heterozygous mutations in WFS 1 can lead to autosomal dominant non-syndromic low frequency sensorineural hearing loss (LFSNHL). In addition, mutations in the WFS region has relationship with diabetes and psychiatric diseases. In this paper, we provide an overview of genetic research with different phenotypes, including WS and LFSNHL.

  17. Genetics Home Reference: nonsyndromic holoprosencephaly

    Science.gov (United States)

    ... brain divides into two halves ( hemispheres ) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish ...

  18. Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile.

    Science.gov (United States)

    Abe, Kensuke; Ohno, Yusuke; Sassa, Takayuki; Taguchi, Ryo; Çalışkan, Minal; Ober, Carole; Kihara, Akio

    2013-12-20

    Very long-chain fatty acids (VLCFAs, chain length >C20) exist in tissues throughout the body and are synthesized by repetition of the fatty acid (FA) elongation cycle composed of four successive enzymatic reactions. In mammals, the TER gene is the only gene encoding trans-2-enoyl-CoA reductase, which catalyzes the fourth reaction in the FA elongation cycle. The TER P182L mutation is the pathogenic mutation for nonsyndromic mental retardation. This mutation substitutes a leucine for a proline residue at amino acid 182 in the TER enzyme. Currently, the mechanism by which the TER P182L mutation causes nonsyndromic mental retardation is unknown. To understand the effect of this mutation on the TER enzyme and VLCFA synthesis, we have biochemically characterized the TER P182L mutant enzyme using yeast and mammalian cells transfected with the TER P182L mutant gene and analyzed the FA elongation cycle in the B-lymphoblastoid cell line with the homozygous TER P182L mutation (TER(P182L/P182L) B-lymphoblastoid cell line). We have found that TER P182L mutant enzyme exhibits reduced trans-2-enoyl-CoA reductase activity and protein stability, thereby impairing VLCFA synthesis and, in turn, altering the sphingolipid profile (i.e. decreased level of C24 sphingomyelin and C24 ceramide) in the TER(P182L/P182L) B-lymphoblastoid cell line. We have also found that in addition to the TER enzyme-catalyzed fourth reaction, the third reaction in the FA elongation cycle is affected by the TER P182L mutation. These findings provide new insight into the biochemical defects associated with this genetic mutation.

  19. Clinical Application of Screening for GJB2 Mutations before Cochlear Implantation in a Heterogeneous Population with High Rate of Autosomal Recessive Nonsyndromic Hearing Loss

    Directory of Open Access Journals (Sweden)

    Masoud Motasaddi Zarandy

    2011-01-01

    Full Text Available Clinical application of mutation screening and its effect on the outcome of cochlear implantation is widely debated. We investigated the effect of mutations in GJB2 gene on the outcome of cochlear implantation in a population with a high rate of consanguineous marriage and autosomal recessive nonsyndromic hearing loss. Two hundred and one children with profound prelingual sensorineural hearing loss were included. Forty-six patients had 35delG in GJB2. Speech awareness thresholds (SATs and speech recognition thresholds (SRTs improved following implantation, but there was no difference in performance between patients with GJB2-related deafness versus control (all >0.10. Both groups had produced their first comprehensible words within the same period of time following implantation (2.27 months in GJB2-related deaf versus 2.62 months in controls, =0.22. Although our findings demonstrate the need to uncover unidentified genetic causes of hereditary deafness, they do not support the current policy for genetic screening before cochlear implantation, nor prove a prognostic value.

  20. The First Survey of Distribution of Inherited Deafness Patterns in Individuals Referred to Genetic Center of Ahvaz Welfare Organization, Southern Iran

    Directory of Open Access Journals (Sweden)

    Gholamreza Mohammadian

    2011-09-01

    Full Text Available Background and Aim: Deafness is a heterogeneous disorder induced by genetic and environmental factors. It is the most common hereditary sensory-neural disorder that affects 1/1000 to 1/2000 of the newborns. More than 70% of hearing loss cases are caused by genetic disorders, 85% of which result from nonsyndromic autosomal recessive sensory-neural hearing loss. Up to now, more than 100 genes contributing in hearing loss have been determined. Alteration of these genes may result in hearing loss.This study was performed to identify the inheritance patterns of deafness and its relation with ethnicity, gender and consanguineous marriages.Methods: In this survey, data from 356 families affected by hearing loss and referred to welfare organization of Ahvaz during the time were collected based on sex, ethnic groups and relativeness.Results: The results state a high frequency of autosomal recessive deafness caused by consanguineous marriages within Arab and non-Arab ethnic groups (p<0.05. But no significant difference in gender."nConclusion: In conclusion, the high frequency of autosomal recessive deafness among the population with a high frequency of consanguineous marriages is considerable. The dominant pattern of deafness observed in this population was autosomal recessive.

  1. Non-syndromic retinitis pigmentosa

    NARCIS (Netherlands)

    Verbakel, S.K. (Sanne K.); R.A.C. van Huet (Ramon A. C.); C.J.F. Boon (Camiel); A.I. Hollander (Anneke); R.W.J. Collin (Rob); C.C.W. Klaver (Caroline); C. Hoyng (Carel); R. Roepman (Ronald); B.J. Klevering (Jeroen)

    2018-01-01

    textabstractRetinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic,

  2. Children, Deaf, of Deaf Parents

    NARCIS (Netherlands)

    Baker, A.E.; van den Bogaerde, B.; Gertz, G.; Boudreault, P.

    2016-01-01

    Deaf children with Deaf parents usually grow up in the Deaf community, that is if their parents offer them a sign language and are active members of the community. These Deaf children are similar to other children of linguistic and cultural minorities in many ways. They are also different in that

  3. Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment.

    Science.gov (United States)

    Qu, Ronggui; Sang, Qing; Xu, Yao; Feng, Ruizhi; Jin, Li; He, Lin; Wang, Lei

    2016-05-01

    Hearing loss is a common sensory impairment. Several genetic loci or genes responsible for non-syndrome hearing loss have been identified, including the well-known deafness genes GJB2, MT-RNR1 and SLC26A4. MYO3A belongs to the myosin superfamily. Previously only three mutations in this gene have been found in an Isreali family with DFNB30, in which patients demonstrated progressive hearing loss. In this study, we characterized a consanguineous Kazakh family with congenital hearing loss. By targeted sequence capture and next-generation sequencing, we identified a homozygous mutation and did bioinformatics analysis to this mutation. A homozygous mutation, MYO3A:c.1841C>T (p.S614F), was identified to be responsible for the disease. Ser614 is located in the motor domain of MYO3A that is highly conserved among different species. Molecular modeling predicts that the conserved Ser614 may play an important role in maintaining the stability of β-sheet and the interaction between neighboring β-strand. This is the second report on MYO3A mutations in deafness and the first report in China. The finding help facilitate establishing a better relationship between MYO3A mutation and hearing phenotypes. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  4. Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

    Directory of Open Access Journals (Sweden)

    Sobia Shafique

    Full Text Available The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL families was initially screened for mutations in GJB2 and MYO15A. Homozygosity mapping was performed by employing whole genome single nucleotide polymorphism (SNP genotyping in the families that did not carry mutations in GJB2 or MYO15A. Mutation analysis was performed for the known ARNSHL genes present in the homozygous regions to determine the causative mutations. This allowed the identification of a causative mutation in all the 30 families including 9 novel mutations, which were identified in 9 different families (GJB2 (c.598G>A, p.Gly200Arg; MYO15A (c.9948G>A, p.Gln3316Gln; c.3866+1G>A; c.8767C>T, p.Arg2923* and c.8222T>C, p.Phe2741Ser, TMC1 (c.362+18A>G, BSND (c.97G>C, p.Val33Leu, TMPRSS3 (c.726C>G, p.Cys242Trp and MSRB3 (c.20T>G, p.Leu7Arg. Furthermore, 12 recurrent mutations were detected in 21 other families. The 21 identified mutations included 10 (48% missense changes, 4 (19% nonsense mutations, 3 (14% intronic mutations, 2 (9% splice site mutations and 2 (9% frameshift mutations. GJB2 accounted for 53% of the families, while mutations in MYO15A were the second most frequent (13% cause of ARNSHL in these 30 families. The identification of novel as well as recurrent mutations in the present study increases the spectrum of mutations in known deafness genes which could lead to the identification of novel founder mutations and population specific mutated deafness genes causative of ARNSHL. These results provide detailed genetic information that has potential diagnostic implication in the establishment of cost-efficient allele-specific analysis of frequently occurring variants in combination with other reported mutations in Pakistani populations.

  5. Genetics Home Reference: CATSPER1-related nonsyndromic male infertility

    Science.gov (United States)

    ... related nonsyndromic male infertility CATSPER1-related nonsyndromic male infertility Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description CATSPER1 -related nonsyndromic male infertility is a condition that affects the function of ...

  6. Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4

    Energy Technology Data Exchange (ETDEWEB)

    Mitchell, L.E.; Healey, S.C.; Chenevix-Trench, G. [St. Louis Univ. Health Sciences Center, MO (United States)]|[Queensland Institute of Medical Research, Brisbane (Australia)

    1995-11-01

    Recent studies suggest that the familial aggregation of nonsyndromic cleft lip with or without cleft palate (CL{+-}P) is likely to be attributable to the effects of several susceptibility loci, acting in a multiplicative fashion. Two potential CL{+-}P susceptibility loci (CSL), transforming growth factor alpha (TGFA) and retinoic acid receptor (RARA), have been identified through association studies. In addition, recent evidence of linkage between CL{+-}P and two markers (D4S175 and D4S192) in the region 4q25-4q31.3 raised the possibility that a CSL, with a larger effect than either TGFA or RARA, may reside within this region of the human genome. The present analyses were undertaken to determine whether D4S175 or D4S192 is significantly associated with CL{+-}P in a sample of unrelated patients that have previously provided evidence of associations between CL{+-}P and both TGFA and RARA. The results of these analyses provide further, tentative, evidence for the presence of a CSL locus on the long arm of chromosome 4 and help to refine the location of this locus in the region of D4S175 and D4S192. 28 refs., 4 tabs.

  7. Waardenburg syndrome in the Turkish deaf population.

    Science.gov (United States)

    Silan, F; Zafer, C; Onder, I

    2006-01-01

    Waardenburg Syndrome (WS) is an autosomal, dominantly inherited disorder that accounts for more than 2% cases of congenital deafness. The aim of this study is to determine the WS incidence among deaf pupils. Dysmorphological examination was performed on 720 children who were attending 7 special schools in Turkey and who had hearing disabilities. All subjects in the study were examined for WS diagnostic criteria. We detected 49 patients (6.8%) with WS among the 720 children examined. Six patients had WS type 1 (12.2%) and 43 had type 2 (87.8%). We observed 2 to 5 major diagnostic criteria for WS. Out of all the subjects in the study, only two patients have deaf first degree relatives. All subjects had been previously examined by physicians for deafness but none of them had been then diagnosed to have Waardenburg Syndrome. Instead, they were all misdiagnosed as to have nonsyndromic deafness. Awareness of WS diagnostic criteria by the physicans will provide accurate diagnosis for many deaf pupils and their first degree relatives who are able-to-hear WS patients and whose children are at risk for deafness.

  8. Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran

    Directory of Open Access Journals (Sweden)

    Masoud Akbarzadeh Laleh

    2017-01-01

    Full Text Available Background: We aimed to determine the contribution of four DFNB loci and mutation analysis of gap junction beta-2 (GJB2 and GJB4 genes in autosomal recessive nonsyndromic hearing loss (ARNSHL in South of Iran. Materials and Methods: A total of 36 large ARNSHL pedigrees with at least two affected subjects were enrolled in the current study. The GJB2 and GJB4 genes mutations were screened using direct sequencing method. The GJB2 and GJB4 negative families were analyzed for the linkage to DFNB21, DFNB24, DFNB29, and DFNB42 loci by genotyping the corresponding STR markers using polymerase chain reaction-PAGE method. Results: We found a homozygous nonsense mutation W77X and a homozygous missense mutation C169W in 5.55% of studied families in GJB2 and GJB4 genes, respectively. Five heterozygous mutations including V63G, A78T, and R127H in GJB2 gene, and R103C and R227W in GJB4 gene were detected. We identified two novel variations V63G in GJB2 and R227W in GJB4. In silico analysis predicted that both novel variations are deleterious mutations. We did not unveil any linkage between DFNB21, DFNB24, DFNB29, and DFNB42 loci and ARNSHL among studied families. Conclusion: This is the first report of GJB2 and GJB4 mutations from Hormozgan population. According to the previous publications regarding GJB2 and GJB4 mutations, the distribution of the mutations is different from other parts of Iran that should be considered in primary health-care programs. Further investigations are needed to evaluate the contribution of other loci in ARNSHL subjects in South of Iran.

  9. Deafness and permanently reduced potassium channel gene expression and function in hypothyroid Pit1dw mutants

    Science.gov (United States)

    Mustapha, Mirna; Fang, Qing; Gong, Tzy-Wen; Dolan, David F.; Raphael, Yehoash; Camper, Sally A.; Duncan, R. Keith

    2012-01-01

    The absence of thyroid hormone (TH) during late gestation and early infancy can cause irreparable deafness in both humans and rodents. A variety of rodent models have been utilized in an effort to identify the underlying molecular mechanism. Here, we characterize a mouse model of secondary hypothyroidism, pituitary transcription factor 1 (Pit1dw), which has profound, congenital deafness that is rescued by oral TH replacement. These mutants have tectorial membrane abnormalities, including a prominent Hensen's stripe, elevated β-tectorin composition, and disrupted striated-sheet matrix. They lack distortion product otoacoustic emissions and cochlear microphonic responses, and exhibit reduced endocochlear potentials, suggesting defects in outer hair cell function and potassium recycling. Auditory system and hair cell physiology, histology and anatomy studies reveal novel defects of hormone deficiency related to deafness: (1) permanently impaired expression of KCNJ10 in the stria vascularis of Pit1dw mice, which likely contributes to the reduced endocochlear potential, (2) significant outer hair cell loss in the mutants, which may result from cellular stress induced by the lower KCNQ4 expression and current levels in Pit1dw mutant outer hair cells and (3) sensory and strial cell deterioration, which may have implications for thyroid hormone dysregulation in age related hearing impairment. In summary, we suggest that these defects in outer hair cell and strial cell function are important contributors to the hearing impairment in Pit1dw mice. PMID:19176829

  10. A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2

    Energy Technology Data Exchange (ETDEWEB)

    Lalwani, A.K.; Brister, J.R.; Fex, J.; Grundfast, K.M.; Pikus, A.T.; Ploplis, B.; San Agustin, T.; Skarka, H.; Wilcox, E.R. [National Institutes of Health, Bethesda, MD (United States)

    1994-10-01

    X-linked deafness is a rare cause of hereditary hearing impairment. We have identified a family with X-linked dominant sensorineural hearing impairment, characterized by incomplete penetrance and variable expressivity in carrier females, that is linked to the Xp21.2, which contains the Duchenne muscular dystrophy (DMD) locus. The auditory impairment in affected males was congenital, bilateral, profound, sensorineural, affecting all frequencies, and without evidence of radiographic abnormality of the temporal bone. Adult carrier females manifested bilateral, mild-to-moderate high-frequency sensorineural hearing impairment of delayed onset during adulthood. Eighteen commercially available polymorphic markers from the X chromosome, generating a 10-15-cM map, were initially used for identification of a candidate region. DXS997, located within the DMD gene, generated a two-point LOD score of 2.91 at {theta} = 0, with every carrier mother heterozygous at this locus. Recombination events at DXS992 (located within the DMD locus, 3{prime} to exon 50 of the dystrophin gene) and at DXS1068 (5{prime} to the brain promoter of the dystrophin gene) were observed. No recombination events were noted with the following markers within the DMD locus: 5{prime}DYS II, intron 44, DXS997, and intron 50. There was no clinical evidence of Duchenne or Becker muscular dystrophy in any family member. It is likely that this family represents a new locus on the X chromosome, which when mutated results in nonsyndromic sensorineural hearing loss and is distinct from the heterogeneous group of X-linked hearing losses that have been previously described. 57 refs., 6 figs., 1 tab.

  11. Evidence for an association between non-syndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4

    Energy Technology Data Exchange (ETDEWEB)

    Healey, S.C.; Chenevix-Trench, G. [Queensland Institute of Medical Research, Brisbane (Australia); Mitchell, L.E. [Saint Louis Univ., MO (United States)

    1994-09-01

    Evidence of linkage has been reported for non-syndromic cleft lip with or without cleft palate (CL{+-}P) and two markers (D4S175 and D4S192) in the region 4q25-4q31.3. The linkage evidence comes from a single Caucasian pedigree with multiple cases of CL{+-}P in five generations. High-density pedigrees are, however, atypical of CL{+-}P and linkage evidence obtained from such a family may not be relevant to the majority of CL{+-}P families. We have, therefore, examined the association of CL{+-}P with both D4S175 and D4S192 in 95 unrelated CL{+-}P patients and 161 unselected controls. There was no evidence for an association between D4S175 and CL{+-}P in these data. There was, however, a significant association between D4S192 and CL{+-}P ({chi}{sup 2}{sub 4}=15.5,P=0.006), and the genotypic distribution was significantly heterogeneous between CL{+-}P patients and controls (P=0.025). Comparison of each of the four most common alleles (i.e A87, A89, A91 and A95), to all other alleles combined, indicated that A87 was significantly less common (OR=0.56,95% C.I. 0.34-0.90), and A95 was significantly more common (OR=1.88,95% C.I. 1.03-3.43) among the CL{+-}P patients than the controls. Although of only borderline significance, A89 also appeared to be more common among patients than controls (OR=1.43,95% C.I. 0.99-2.60). Hence, it appears that genetic variation at a CL{+-}P susceptibility locus (CSL) linked to D4S192 may be associated with both increased and decreased risk of CL{+-}P. In combination, A89 and A95 are significantly more common in CL{+-}P patients than in controls (OR=1.80;95% C.I. 1.24-2.60) and account for a risk ratio of 1.08 in the first degree relatives of CL{+-}P patients. These results provide further evidence for the presence of a CSL in the region 4q25-4q31.1, and indicate that the putative CSL is located closer to D4S192 than to D4S175.

  12. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Liu, Huan; Carlson, Jenna C

    2016-01-01

    Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP h...

  13. PVRL1 as a Candidate Gene for Nonsyndromic Cleft Lip With or Without Cleft Palate: No Evidence for the Involvement of Common or Rare Variants in Southern Han Chinese Patients

    Science.gov (United States)

    Cheng, Hong-Qiu; Huang, En-Min; Xu, Ming-Yan; Shu, Shen-You

    2012-01-01

    The poliovirus receptor related-1 (PVRL1) gene encodes nectin-1, a cell–cell adhesion molecule (OMIM #600644), and is mutated in the cleft lip with or without cleft palate/ectodermal dysplasia-1 syndrome (CLPED1, OMIM #225000). In addition, PVRL1 mutations have been associated with nonsyndromic cleft lip with or without a cleft palate (NSCL/P) in studies of multiethnic samples. To investigate the possible involvement of this gene in southern Han Chinese NSCL/P patients, we performed (i) a case–control association study, and (ii) a resequencing study. A set of 470 patients with NSCL/P and 693 controls were recruited, and a total of 45 tagging single-nucleotide polymorphisms (SNPs) were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. In the resequencing study, the coding regions of the PVRL1 α isoform were direct sequenced in 45 trios from multiply affected families. One (rs7128327) of the 45 tested SNPs showed a trend toward statistical significance in the genotypic-level chi-square test (p=0.009567). However, this result did not withstand correction for multiple testing. Likewise, sliding window haplotype analyses consisting of two, three, or four SNPs failed to detect any positive association. Resequencing analysis also failed to identify any novel rare sequence variants. In conclusion, the present study provided no support for the hypothesis that common or rare variants in PVRL1 play a significant role in NSCL/P development in the southern Han Chinese population. This is the first study that has used tagging SNPs covering all the coding and noncoding regions to search for common NSCL/P-associated mutations of PVRL1. PMID:22455396

  14. Genetics of nonsyndromic obesity.

    Science.gov (United States)

    Lee, Yung Seng

    2013-12-01

    Common obesity is widely regarded as a complex, multifactorial trait influenced by the 'obesogenic' environment, sedentary behavior, and genetic susceptibility contributed by common and rare genetic variants. This review describes the recent advances in understanding the role of genetics in obesity. New susceptibility loci and genetic variants are being uncovered, but the collective effect is relatively small and could not explain most of the BMI heritability. Yet-to-be identified common and rare variants, epistasis, and heritable epigenetic changes may account for part of the 'missing heritability'. Evidence is emerging about the role of epigenetics in determining obesity susceptibility, mediating developmental plasticity, which confers obesity risk from early life experiences. Genetic prediction scores derived from selected genetic variants, and also differential DNA methylation levels and methylation scores, have been shown to correlate with measures of obesity and response to weight loss intervention. Genetic variants, which confer susceptibility to obesity-related morbidities like nonalcoholic fatty liver disease, were also discovered recently. We can expect discovery of more rare genetic variants with the advent of whole exome and genome sequencing, and also greater understanding of epigenetic mechanisms by which environment influences genetic expression and which mediate the gene-environment interaction.

  15. Nonsyndromic Hearing Loss Caused by USH1G Mutations: Widening the USH1G Disease Spectrum

    NARCIS (Netherlands)

    Oonk, A.M.M.; Huet, R.A.C. van; Leijendeckers, J.M.; Oostrik, J.; Venselaar, H.; WIjk, E. van; Beynon, A.J.; Kunst, H.P.M.; Hoyng, C.B.; Kremer, H.; Schraders, M.; Pennings, R.J.E.

    2015-01-01

    OBJECTIVE: Currently, six genes are known to be associated with Usher syndrome type I, and mutations in most of these genes can also cause nonsyndromic hearing loss. The one exception is USH1G, which is currently only known to be involved in Usher syndrome type I and atypical Usher syndrome. DESIGN:

  16. Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.

    NARCIS (Netherlands)

    Chen, W.; Jensen, L.R.; Gecz, J.; Fryns, J.P.; Moraine, C.; Brouwer, A.; Chelly, J.; Moser, B.; Ropers, H.H.; Kuss, A.W.

    2007-01-01

    MiRNAs are small noncoding RNAs that control the expression of target genes at the post-transcriptional level and have been reported to modulate various biological processes. Their function as regulatory factors in gene expression renders them attractive candidates for harbouring genetic variants

  17. Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss

    International Nuclear Information System (INIS)

    Mkaouar-Rebai, Emna; Tlili, Abdelaziz; Masmoudi, Saber; Louhichi, Nacim; Charfeddine, Ilhem; Amor, Mohamed Ben; Lahmar, Imed; Driss, Nabil; Drira, Mohamed; Ayadi, Hammadi; Fakhfakh, Faiza

    2006-01-01

    We explored the mitochondrial 12S rRNA and the tRNA Ser(UCN) genes in 100 Tunisian families affected with NSHL and in 100 control individuals. We identified the mitochondrial A1555G mutation in one out of these 100 families and not in the 100 control individuals. Members of this family harbouring the A1555G mutation showed phenotypic heterogeneity which could be explained by an eventual nuclear-mitochondrial interaction. So, we have screened three nuclear genes: GJB2, GJB3, and GJB6 but we have not found correlation between the phenotypic heterogeneity and variants detected in these genes. We explored also the entire mitochondrial 12S rRNA and the tRNA Ser(UCN) genes. We detected five novel polymorphisms: T742C, T794A, A813G, C868T, and C954T, and 12 known polymorphisms in the mitochondrial 12S rRNA gene. None of the 100 families or the 100 controls were found to carry mutations in the tRNA Ser(UCN) gene. We report here First mutational screening of the mitochondrial 12S rRNA and the tRNA Ser(UCN) genes in the Tunisian population which describes the second family harbouring the A1555G mutation in Africa and reveals novel polymorphisms in the mitochondrial 12S rRNA gene

  18. Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.

    Science.gov (United States)

    Bousfiha, Amale; Bakhchane, Amina; Charoute, Hicham; Detsouli, Mustapha; Rouba, Hassan; Charif, Majida; Lenaers, Guy; Barakat, Abdelhamid

    2017-10-01

    In the present work, we identified two novel compound heterozygote mutations in the GPR98 (G protein-coupled receptor 98) gene causing Usher syndrome. Whole-exome sequencing was performed to study the genetic causes of Usher syndrome in a Moroccan family with three affected siblings. We identify two novel compound heterozygote mutations (c.1054C > A, c.16544delT) in the GPR98 gene in the three affected siblings carrying post-linguale bilateral moderate hearing loss with normal vestibular functions and before installing visual disturbances. This is the first time that mutations in the GPR98 gene are described in the Moroccan deaf patients.

  19. Seeing the Deaf in "Deafness"

    Science.gov (United States)

    Obasi, Chijioke

    2008-01-01

    This article draws on some of the existing literature on the politics of identity and representation as related to minority group formation. It applies this to constructions of Deaf identity from a cultural and linguistic perspective and contrasts this with dominant constructions of Deaf people as disabled. It highlights a number of ways in which…

  20. Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome.

    Science.gov (United States)

    Chang, Qing; Wang, Jianjun; Li, Qi; Kim, Yeunjung; Zhou, Binfei; Wang, Yunfeng; Li, Huawei; Lin, Xi

    2015-08-01

    Mutations in the potassium channel subunit KCNQ1 cause the human severe congenital deafness Jervell and Lange-Nielsen (JLN) syndrome. We applied a gene therapy approach in a mouse model of JLN syndrome (Kcnq1(-/-) mice) to prevent the development of deafness in the adult stage. A modified adeno-associated virus construct carrying a Kcnq1 expression cassette was injected postnatally (P0-P2) into the endolymph, which resulted in Kcnq1 expression in most cochlear marginal cells where native Kcnq1 is exclusively expressed. We also found that extensive ectopic virally mediated Kcnq1 transgene expression did not affect normal cochlear functions. Examination of cochlear morphology showed that the collapse of the Reissner's membrane and degeneration of hair cells (HCs) and cells in the spiral ganglia were corrected in Kcnq1(-/-) mice. Electrophysiological tests showed normal endocochlear potential in treated ears. In addition, auditory brainstem responses showed significant hearing preservation in the injected ears, ranging from 20 dB improvement to complete correction of the deafness phenotype. Our results demonstrate the first successful gene therapy treatment for gene defects specifically affecting the function of the stria vascularis, which is a major site affected by genetic mutations in inherited hearing loss. © 2015 The Authors. Published under the terms of the CC BY 4.0 license.

  1. Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.

    Directory of Open Access Journals (Sweden)

    Anna Ka-Yee Kwong

    Full Text Available Epileptic Encephalopathy (EE is a heterogeneous condition in which cognitive, sensory and/or motor functions deteriorate as a consequence of epileptic activity, which consists of frequent seizures and/or major interictal paroxysmal activity. There are various causes of EE and they may occur at any age in early childhood. Genetic mutations have been identified to contribute to an increasing number of children with early onset EE which had been previously considered as cryptogenic. We identified 26 patients with Infantile Epileptic Encephalopathy (IEE of unknown etiology despite extensive workup and without any specific epilepsy syndromic phenotypes. We performed genetic analysis on a panel of 7 genes (ARX, CDKL5, KCNQ2, PCDH19, SCN1A, SCN2A, STXBP1 and identified 10 point mutations [ARX (1, CDKL5 (3, KCNQ2 (2, PCDH19 (1, SCN1A (1, STXBP1 (2] as well as one microdeletion involving both SCN1A and SCN2A. The high rate (42% of mutations suggested that genetic testing of this IEE panel of genes is recommended for cryptogenic IEE with no etiology identified. These 7 genes are associated with channelopathies or synaptic transmission and we recommend early genetic testing if possible to guide the treatment strategy.

  2. Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

    Directory of Open Access Journals (Sweden)

    Kentaro Mori

    Full Text Available Sensorineural hearing loss is one of the most common neurosensory disorders in humans. The incidence of SNHL is estimated to be 1 in 500-1000 newborns. In more than half of these patients, the hearing loss is associated with genetic causes. In Japan, genetic testing for the patients with SNHL using the Invader assay to screen for 46 mutations in 13 deafness genes was approved by the Ministry of Health, Labour and Welfare for inclusion in social health insurance coverage in 2012. Furthermore, from August 2015, this genetic testing has been expanded to screen for 154 mutations in 19 deafness genes using targeted genomic enrichment with massively parallel DNA sequencing combined with the Invader assay and TaqMan genotyping. For this study we analyzed 717 unrelated Japanese hearing loss patients. The total allele frequency of 154 mutations in 19 deafness genes was 32.64% (468/1434 and the total numbers of cases associated with at least one mutation was 44.07% (316/717. Among these, we were able to diagnose 212 (30% patients, indicating that the present screening could efficiently identify causative mutations in hearing loss patients. It is noteworthy that 27 patients (3.8% had coexistent multiple mutations in different genes. Five of these 27 patients (0.7%, 5/717 overall were diagnosed with genetic hearing loss affected by concomitant with responsible mutations in more than two different genes. For patients identified with multiple mutations in different genes, it is necessary to consider that several genes might have an impact on their phenotypes.

  3. Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate

    Energy Technology Data Exchange (ETDEWEB)

    Feng, Hongshu; Lee, A.; Gasser, D.L. [Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States); Sassani, R.; Bartlett, S.P. [Children`s Hospital of Philadelphia, PA (United States); Buetow, K.H. [Fox Chase Cancer Center, Philadelphia, PA (United States); Hecht, J.T. [Univ. of Texas Medical School, Houston, TX (United States); Malcolm, S.; Winter, R.M.; Vintiner, G.M. [Univ. of London (United Kingdom)

    1994-11-01

    The inheritance of alleles of the transforming growth factor alpha (TGFA) locus has been studied in families affected with cleft lip with or without cleft palate (CL/P), by using the transmission/disequilibrium test described by Spielman and colleagues. Only heterozygous parents with an affected child can be included in this test, but within such families a significantly greater frequency of C2 alleles were transmitted to affected children than would be expected by chance. There was no evidence that the total number of C2 alleles transmitted to affected and unaffected children differed significantly from random segregation. These data provide evidence from within families that a gene for susceptibility to CL/P is in significant linkage disequilibrium with the C2 allele of the TGFA locus. 30 refs., 1 fig., 2 tabs.

  4. Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

    Science.gov (United States)

    Ludwig, Kerstin U.; Ahmed, Syeda Tasnim; Böhmer, Anne C.; Sangani, Nasim Bahram; Varghese, Sheryil; Klamt, Johanna; Schuenke, Hannah; Gültepe, Pinar; Hofmann, Andrea; Rubini, Michele; Aldhorae, Khalid Ahmed; Steegers-Theunissen, Regine P.; Rojas-Martinez, Augusto; Reiter, Rudolf; Borck, Guntram; Knapp, Michael; Nakatomi, Mitsushiro; Graf, Daniel; Mangold, Elisabeth; Peters, Heiko

    2016-01-01

    Nonsyndromic orofacial clefts are common birth defects with multifactorial etiology. The most common type is cleft lip, which occurs with or without cleft palate (nsCLP and nsCLO, respectively). Although genetic components play an important role in nsCLP, the genetic factors that predispose to palate involvement are largely unknown. In this study, we carried out a meta-analysis on genetic and clinical data from three large cohorts and identified strong association between a region on chromosome 15q13 and nsCLP (P = 8.13×10−14 for rs1258763; relative risk (RR): 1.46, 95% confidence interval (CI): 1.32–1.61)) but not nsCLO (P = 0.27; RR: 1.09 (0.94–1.27)). The 5 kb region of strongest association maps downstream of Gremlin-1 (GREM1), which encodes a secreted antagonist of the BMP4 pathway. We show during mouse embryogenesis, Grem1 is expressed in the developing lip and soft palate but not in the hard palate. This is consistent with genotype-phenotype correlations between rs1258763 and a specific nsCLP subphenotype, since a more than two-fold increase in risk was observed in patients displaying clefts of both the lip and soft palate but who had an intact hard palate (RR: 3.76, CI: 1.47–9.61, Pdifflip or palate defects in Grem1-deficient mice, wild type embryonic palatal shelves developed divergent shapes when cultured in the presence of ectopic Grem1 protein (P = 0.0014). The present study identified a non-coding region at 15q13 as the second, genome-wide significant locus specific for nsCLP, after 13q31. Moreover, our data suggest that the closely located GREM1 gene contributes to a rare clinical nsCLP entity. This entity specifically involves abnormalities of the lip and soft palate, which develop at different time-points and in separate anatomical regions. PMID:26968009

  5. Genetics of syndromic and non-syndromic mitral valve prolapse.

    Science.gov (United States)

    Le Tourneau, Thierry; Mérot, Jean; Rimbert, Antoine; Le Scouarnec, Solena; Probst, Vincent; Le Marec, Hervé; Levine, Robert A; Schott, Jean-Jacques

    2018-01-19

    Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the identification of prodromal or atypical forms as a part of the complex spectrum of the disease. Whereas autosomal dominant mode is the common inheritance pattern, an X linked form of non-syndromic MVP was recognised initially, related to Filamin-A gene, encoding for a cytoskeleton protein involved in mechanotransduction. This identification allowed a comprehensive description of a new subtype of MVP with a unique association of leaflet prolapse and paradoxical restricted motion in diastole. In autosomal dominant forms, three loci have been mapped to chromosomes 16p11-p12, 11p15.4 and 13q31-32. Although deciphering the underlying genetic defects is still a work in progress, DCHS1 mutations have been identified (11p15.4) in typical myxomatous disease, highlighting new molecular pathways and pathophysiological mechanisms leading to the development of MVP. Finally, a large international genome-wide association study demonstrated the implication of frequent variants in MVP development and opened new directions for future research. Hence, this review focuses on phenotypic, genetic and pathophysiological aspects of MVP. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  6. Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV.

    Science.gov (United States)

    Wang, Hong-Han; Feng, Yong; Li, Hai-Bo; Wu, Hong; Mei, Ling-Yun; Wang, Xing-Wei; Jiang, Lu; He, Chu-Feng

    2017-01-01

    Bartter syndrome type IV, characterized by salt-losing nephropathies and sensorineural deafness, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB. GJB2 is the primary causative gene for non-syndromic sensorineural deafness and associated with several syndromic sensorineural deafness. Owing to the rarity of Bartter syndrome, only a few mutations have been reported in the abovementioned causative genes. To investigate the underlying mutations in a Chinese patient with Bartter syndrome type IV, genetic analysis of BSND, CLCNKA, CLCNKB and GJB2 were performed by polymerase chain reaction and direct sequencing. Finally, double homozygous mutations c.22C > T (p.Arg8Trp) and c.127G > A (Val43Ile) were detected in exon 1 of BSND. Intriguingly, compound heterozygous mutations c.235delC (p.Leu79CysfsX3) and c.109G > A (p.Val37Ile) were also revealed in exon 2 of GJB2 in the same patient. No pathogenic mutations were found in CLCNKA and CLCNKB. Our results indicated that the homozygous mutation c.22C > T was the key genetic reason for the proband, and a digenic effect of BSND and GJB2 might contributed to sensorineural deafness. To our knowledge, it was the first report showing that the GJB2 gene mutations were detected in Bartter syndrome. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  7. Deaf directory.

    Science.gov (United States)

    1994-11-23

    The third edition of the 199415 Directory from the Council for the Advancement of Communication with Deaf People (CACDP) is now available. Information on 192 sign language interpreters, lipspeakers, interpreters for deafblind people and speech to text reporters is provided. Details from CACDP on 0191 374 3607.

  8. Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26–q27 in a Consanguineous Kindred from Pakistan

    OpenAIRE

    Ansar, Muhammad; Ramzan, Mohammad; Pham, Thanh L.; Yan, Kai; Jamal, Syed Muhammad; Haque, Sayedul; Ahmad, Wasim; Leal, Suzanne M.

    2003-01-01

    For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26–q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26–q27 (Multipoint lod...

  9. Association of MEOX2 polymorphism with nonsyndromic cleft palate only in a Vietnamese population.

    Science.gov (United States)

    Tran, Duy L; Imura, Hideto; Mori, Akihiro; Suzuki, Satoshi; Niimi, Teruyuki; Ono, Maya; Sakuma, Chisato; Nakahara, Shinichi; Nguyen, Tham T H; Pham, Phuong T; Hoang, Viet; Tran, Van T T; Nguyen, Minh D; Natsume, Nagato

    2017-10-14

    To evaluate the association between the single nucleotide polymorphism (SNP) rs227493 in the MEOX2 gene and nonsyndromic cleft palate only, this research was conducted as a case-control study by comparing a nonsyndromic cleft palate only group with an independent, healthy, and unaffected control group who were both examined by specialists. Based on clinical examination and medical records, we analyzed a total of 570 DNA samples, including 277 cases and 293 controls, which were extracted from dry blood spot samples collected from both the Odonto and Maxillofacial Hospital in Ho Chi Minh City and Nguyen Dinh Chieu Hospital in Ben Tre province, respectively. The standard procedures of genotyping the specific SNP (rs2237493) for MEOX2 were performed on a StepOne Realtime PCR system with TaqMan SNP Genotyping Assays. Significant statistical differences were observed in allelic frequencies (allele T and allele G) between the non-syndromic cleft palate only and control groups in female subjects, with an allelic odds ratio of 1.455 (95% confidence interval: 1.026-2.064) and P < 0.05. These study findings suggest that nonsyndromic isolated cleft palate might be influenced by variation of MEOX2, especially SNP rs2237493 in Vietnamese females. © 2017 Japanese Teratology Society.

  10. Genetics Home Reference: nonsyndromic hearing loss

    Science.gov (United States)

    ... Centre for Genetics Education (Australia) Disease InfoSearch: Deafness Harvard Medical School Center for Hereditary Deafness Hereditary Hearing ... Available from http://www.ncbi.nlm.nih.gov/books/NBK1434/ Citation on ... Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  11. Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A

    Energy Technology Data Exchange (ETDEWEB)

    Hecht, J.T.; Yaping Wang; Connor, B.; Daiger, S.P. (Univ. of Texas, Houston (United States)); Blanton, S.H. (Univ. of Texas, Houston (United States) Univ. of Virginia, Charlottesville (United States))

    1993-06-01

    Nonsyndromic cleft lip with or without cleft palate (CLP) is a common craniofacial anomaly, the etiology of which is not known. Population studies have shown that a large proportion of cases occur sporadically. Recently, segregation analyses applied to CLP families have demonstrated that an autosomal dominant/codominant gene(s) may cause clefting in cases. Associations of autosomal dominant CLP and nonsyndromic cleft palate (CP) with HLA and F13A genes on chromosome 6p have been suggested previously. Linkage to these two areas on chromosome 6p were tested in 12 autosomal dominant families with CLP. With a LOD score of [minus]2 or less for exclusion, no evidence of linkage was found to four chromosome 6p markers. Multipoint analysis showed no evidence of a clefting locus in this region spanning 54 cM on chromosome 6p in these CLP families. 30 refs., 2 figs., 1 tab.

  12. A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

    Directory of Open Access Journals (Sweden)

    Zhijie Niu

    Full Text Available X-linked hearing impairment is the rarest form of genetic hearing loss (HL and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5 in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls. Subpopulation screening of the coding exons and flanking introns of SMPX was further performed for 338 Chinese patients with nonsydromic HL by Sanger sequencing, and another two potential causative substitutions (c.238C>A and c.55A>G in SMPX were identified in additional sporadic cases of congenital deafness. Collectively, this study is the first to report the role of SMPX in Chinese population and identify a novel frameshift mutation in SMPX that causes not only nonsyndromic late-onset progressive HL, but also congenital hearing impairment. Our findings extend the mutation and phenotypic spectrum of the SMPX gene.

  13. Identification of Missense Mutation (I12T in the BSND Gene and Bioinformatics Analysis

    Directory of Open Access Journals (Sweden)

    Hina Iqbal

    2011-01-01

    Full Text Available Nonsyndromic hearing loss is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear disease genes reported so far. Mutations of BSND have been shown to cause Bartter syndrome type IV, characterized by significant renal abnormalities and deafness and nonsyndromic nearing loss. We studied a Pakistani consanguineous family. Clinical examinations of affected individuals did not reveal the presence of any associated signs, which are hallmarks of the Bartter syndrome type IV. Linkage analysis identified an area of 18.36 Mb shared by all affected individuals between markers D1S2706 and D1S1596. A maximum two-point LOD score of 2.55 with markers D1S2700 and multipoint LOD score of 3.42 with marker D1S1661 were obtained. BSND mutation, that is, p.I12T, cosegregated in all extant members of our pedigree. BSND mutations can cause nonsyndromic hearing loss, and it is a second report for this mutation. The respected protein, that is, BSND, was first modeled, and then, the identified mutation was further analyzed by using different bioinformatics tools; finally, this protein and its mutant was docked with CLCNKB and REN, interactions of BSND, respectively.

  14. Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.

    Science.gov (United States)

    Russell-Eggitt, I M

    2000-12-01

    When an X-linked pedigree of posterior lenticonus with cataract was identified further evidence for X-linked inheritance of this condition was sought. Forty-three cases of posterior lenticonus were identified from a database of 354 children with cataract. Two children with the X-linked syndromes of Lowe and Nance-Horan and 3 children with Fanconi syndrome have been excluded from further analysis. None of the children was deaf. None of the non-syndromic cases had microcornea. There were 38 cases of non-syndromic posterior lenticonus (approximately 11%). There were 15 children from 13 pedigrees and 23 apparently sporadic cases. Of the 106 cases on the database with unilateral cataract 15 had posterior lenticonus (approximately 14%). Eleven of 13 pedigrees were compatible with X-linked inheritance or autosomal dominant inheritance with variable expression. However, in 2 pedigrees there was father to son transmission. Posterior lenticonus is a common cause of unilateral infantile cataract, but is thought to be a rare cause of bilateral cataracts. This study suggests that posterior lenticonus is responsible for a significant proportion of childhood cataracts (approximately 14% of unilateral and approximately 9% of bilateral cases). Posterior lenticonus is generally thought to occur as a sporadic condition. This study demonstrates that there is a family history of early-onset cataract in a significant number of bilateral cases (approximately 58%).

  15. Deaf Culture. PEPNet Tipsheet

    Science.gov (United States)

    Siple, Linda; Greer, Leslie; Holcomb, Barbra Ray

    2004-01-01

    It often comes as a surprise to people that many deaf people refer to themselves as being members of Deaf culture. The American Deaf culture is a unique linguistic minority that uses American Sign Language (ASL) as its primary mode of communication. This tipsheet provides a description of Deaf culture and suggestions for effective communication.

  16. Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

    OpenAIRE

    Waryah, Ali M.; Ahmed, Zubair M.; Choo, Daniel I.; Sisk, Robert A.; Binder, Munir A.; Shahzad, Mohsin; Khan, Shaheen N.; Friedman, Thomas B.; Riazuddin, Sheikh; Riazuddin, Saima

    2011-01-01

    There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132, PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively....

  17. Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations

    International Nuclear Information System (INIS)

    Yan Qingfeng; Bykhovskaya, Yelena; Li Ronghua; Mengesha, Emebet; Shohat, Mordechai; Estivill, Xavier; Fischel-Ghodsian, Nathan; Guan Minxin

    2006-01-01

    Nuclear modifier genes have been proposed to modulate the phenotypic manifestation of human mitochondrial 12S rRNA A1491G mutation associated with deafness in many families world-wide. Here we identified and characterized the putative nuclear modifier gene TRMU encoding a highly conserved mitochondrial protein related to tRNA modification. A 1937 bp TRMU cDNA has been isolated and the genomic organization of TRMU has been elucidated. The human TRMU gene containing 11 exons encodes a 421 residue protein with a strong homology to the TRMU-like proteins of bacteria and other homologs. TRMU is ubiquitously expressed in various tissues, but abundantly in tissues with high metabolic rates including heart, liver, kidney, and brain. Immunofluorescence analysis of human 143B cells expressing TRMU-GFP fusion protein demonstrated that the human Trmu localizes and functions in mitochondrion. Furthermore, we show that in families with the deafness-associated 12S rRNA A1491G mutation there is highly suggestive linkage and linkage disequilibrium between microsatellite markers adjacent to TRMU and the presence of deafness. These observations suggest that human TRMU may modulate the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA mutations

  18. Marital Quality in Deaf-Deaf and Deaf-Hearing Marriages

    OpenAIRE

    Mosier, Anthony G.

    1999-01-01

    The purpose of this study was to assess similarities and differences in marital adjustment between Deaf-Deaf and Deaf-hearing married couples. In examining marital adjustment, Spanier's Revised Dyadic Adjustment Scale (RDAS) was translated from English to American Sign Language (ASL) and administered to 30 Deaf-Deaf and 22 Deaf-hearing couple respondents. Although there were no statistically significant differences between the two groups. Deaf-Deaf couples tended to have higher marital adj...

  19. Inner ear morphology is perturbed in two novel mouse models of recessive deafness.

    Directory of Open Access Journals (Sweden)

    Kerry A Miller

    Full Text Available Human MYO7A mutations can cause a variety of conditions involving the inner ear. These include dominant and recessive non-syndromic hearing loss and syndromic conditions such as Usher syndrome. Mouse models of deafness allow us to investigate functional pathways involved in normal and abnormal hearing processes. We present two novel mouse models with mutations in the Myo7a gene with distinct phenotypes. The mutation in Myo7a(I487N/I487N ewaso is located within the head motor domain of Myo7a. Mice exhibit a profound hearing loss and manifest behaviour associated with a vestibular defect. A mutation located in the linker region between the coiled-coil and the first MyTH4 domains of the protein is responsible in Myo7a(F947I/F947I dumbo. These mice show a less severe hearing loss than in Myo7a(I487N/I487N ewaso; their hearing loss threshold is elevated at 4 weeks old, and progressively worsens with age. These mice show no obvious signs of vestibular dysfunction, although scanning electron microscopy reveals a mild phenotype in vestibular stereocilia bundles. The Myo7a(F947I/F947I dumbo strain is therefore the first reported Myo7a mouse model without an overt vestibular phenotype; a possible model for human DFNB2 deafness. Understanding the molecular basis of these newly identified mutations will provide knowledge into the complex genetic pathways involved in the maintenance of hearing, and will provide insight into recessively inherited sensorineural hearing loss in humans.

  20. Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

    Science.gov (United States)

    Hildebrand, Michael S; de Silva, Michelle G; Tan, Tiong Yang; Rose, Elizabeth; Nishimura, Carla; Tolmachova, Tanya; Hulett, Joanne M; White, Susan M; Silver, Jeremy; Bahlo, Melanie; Smith, Richard J H; Dahl, Hans-Henrik M

    2007-11-01

    X-linked syndromes associated with developmental delay and sensorineural hearing loss (SNHL) have been characterized at the molecular level, including Mohr-Tranebjaerg syndrome and Norrie disease. In this study we report on a novel X-linked recessive, congenital syndrome in a family with developmental delay and SNHL that maps to a locus associated with mental retardation (MR) for which no causative gene has been identified. The X-linked recessive inheritance and congenital nature of the syndrome was confirmed by detailed clinical investigation and the family history. Linkage mapping of the X-chromosome was conducted to ascertain the disease locus and candidate genes were screened by direct sequencing and STRP analysis. The recessive syndrome was mapped to Xp11.3-q21.32 and a deletion was identified in a regulatory region upstream of the POU3F4 gene in affected family members. Since mutations in POU3F4 cause deafness at the DFN3 locus, the deletion is the likely cause of the SNHL in this family. The choroideremia (CHM) gene was also screened and a novel missense change was identified. The alteration changes the serine residue at position 89 in the Rab escort 1 protein (REP-1) to a cysteine (S89C). Prenylation of Rab proteins was investigated in patients and the location of REP-1 expression in the brain determined. However, subsequent analysis revealed that this change in CHM was polymorphic having no effect on REP-1 function. Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates. Copyright 2007 Wiley-Liss, Inc.

  1. Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.

    Science.gov (United States)

    Nishio, Shin-Ya; Takumi, Yutaka; Usami, Shin-Ichi

    2017-05-01

    Cochlear implantation (CI), which directly stimulates the cochlear nerves, is the most effective and widely used medical intervention for patients with severe to profound sensorineural hearing loss. The etiology of the hearing loss is speculated to have a major influence of CI outcomes, particularly in cases resulting from mutations in genes preferentially expressed in the spiral ganglion region. To elucidate precise gene expression levels in each part of the cochlea, we performed laser-capture micro dissection in combination with next-generation sequencing analysis and determined the expression levels of all known deafness-associated genes in the organ of Corti, spiral ganglion, lateral wall, and spiral limbs. The results were generally consistent with previous reports based on immunocytochemistry or in situ hybridization. As a notable result, the genes associated with many kinds of syndromic hearing loss (such as Clpp, Hars2, Hsd17b4, Lars2 for Perrault syndrome, Polr1c and Polr1d for Treacher Collins syndrome, Ndp for Norrie Disease, Kal for Kallmann syndrome, Edn3 and Snai2 for Waardenburg Syndrome, Col4a3 for Alport syndrome, Sema3e for CHARGE syndrome, Col9a1 for Sticker syndrome, Cdh23, Cib2, Clrn1, Pcdh15, Ush1c, Ush2a, Whrn for Usher syndrome and Wfs1 for Wolfram syndrome) showed higher levels of expression in the spiral ganglion than in other parts of the cochlea. This dataset will provide a base for more detailed analysis in order to clarify gene functions in the cochlea as well as predict CI outcomes based on gene expression data. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  2. Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies.

    Directory of Open Access Journals (Sweden)

    Jennifer S Yokoyama

    2012-09-01

    Full Text Available Domestic dogs can suffer from hearing losses that can have profound impacts on working ability and quality of life. We have identified a type of adult-onset hearing loss in Border Collies that appears to have a genetic cause, with an earlier age of onset (3-5 years than typically expected for aging dogs (8-10 years. Studying this complex trait within pure breeds of dog may greatly increase our ability to identify genomic regions associated with risk of hearing impairment in dogs and in humans. We performed a genome-wide association study (GWAS to detect loci underlying adult-onset deafness in a sample of 20 affected and 28 control Border Collies. We identified a region on canine chromosome 6 that demonstrates extended support for association surrounding SNP Chr6.25819273 (p-value = 1.09 × 10(-13. To further localize disease-associated variants, targeted next-generation sequencing (NGS of one affected and two unaffected dogs was performed. Through additional validation based on targeted genotyping of additional cases (n = 23 total and controls (n = 101 total and an independent replication cohort of 16 cases and 265 controls, we identified variants in USP31 that were strongly associated with adult-onset deafness in Border Collies, suggesting the involvement of the NF-κB pathway. We found additional support for involvement of RBBP6, which is critical for cochlear development. These findings highlight the utility of GWAS-guided fine-mapping of genetic loci using targeted NGS to study hereditary disorders of the domestic dog that may be analogous to human disorders.

  3. Variation in Genes Related to Cochlear Biology Is Strongly Associated with Adult-Onset Deafness in Border Collies

    Science.gov (United States)

    Ruhe, Alison L.; Erdman, Carolyn A.; Robertson, Kathryn R.; Webb, Aubrey A.; Williams, D. Colette; Chang, Melanie L.; Hytönen, Marjo K.; Lohi, Hannes; Hamilton, Steven P.; Neff, Mark W.

    2012-01-01

    Domestic dogs can suffer from hearing losses that can have profound impacts on working ability and quality of life. We have identified a type of adult-onset hearing loss in Border Collies that appears to have a genetic cause, with an earlier age of onset (3–5 years) than typically expected for aging dogs (8–10 years). Studying this complex trait within pure breeds of dog may greatly increase our ability to identify genomic regions associated with risk of hearing impairment in dogs and in humans. We performed a genome-wide association study (GWAS) to detect loci underlying adult-onset deafness in a sample of 20 affected and 28 control Border Collies. We identified a region on canine chromosome 6 that demonstrates extended support for association surrounding SNP Chr6.25819273 (p-value = 1.09×10−13). To further localize disease-associated variants, targeted next-generation sequencing (NGS) of one affected and two unaffected dogs was performed. Through additional validation based on targeted genotyping of additional cases (n = 23 total) and controls (n = 101 total) and an independent replication cohort of 16 cases and 265 controls, we identified variants in USP31 that were strongly associated with adult-onset deafness in Border Collies, suggesting the involvement of the NF-κB pathway. We found additional support for involvement of RBBP6, which is critical for cochlear development. These findings highlight the utility of GWAS–guided fine-mapping of genetic loci using targeted NGS to study hereditary disorders of the domestic dog that may be analogous to human disorders. PMID:23028339

  4. Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNASer(UCN) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss

    International Nuclear Information System (INIS)

    Yuan Huijun; Chen Jing; Liu Xin; Cheng Jing; Wang Xinjian; Yang Li; Yang Shuzhi; Cao Juyang; Kang Dongyang; Dai Pu; Zha, Suoqiang; Han Dongyi; Young Wieyen; Guan Minxin

    2007-01-01

    Mutations in mitochondrial DNA are one of the important causes of hearing loss. We report here the clinical, genetic, and molecular characterization of two Han Chinese pedigrees with maternally transmitted aminoglycoside-induced and nonsyndromic bilateral hearing loss. Clinical evaluation revealed the wide range of severity, age-at-onset, and audiometric configuration of hearing impairment in matrilineal relatives in these families. The penetrances of hearing loss in these pedigrees were 20% and 18%, when aminoglycoside-induced deafness was included. When the effect of aminoglycosides was excluded, the penetrances of hearing loss in these seven pedigrees were 10% and 15%. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the presence of the deafness-associated 12S rRNA C1494T and CO1/tRNA Ser(UCN) G7444A mutations. Their distinct sets of mtDNA polymorphism belonged to Eastern Asian haplogroup C4a1, while other previously identified six Chinese mitochondrial genomes harboring the C1494T mutation belong to haplogroups D5a2, D, R, and F1, respectively. This suggested that the C1494T or G7444A mutation occurred sporadically and multiplied through evolution of the mitochondrial DNA (mtDNA). The absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in their mtDNA suggest that these mtDNA haplogroup-specific variants may not play an important role in the phenotypic expression of the 12S rRNA C1494T and CO1/tRNA Ser(UCN) G7444A mutations in those Chinese families. However, aminoglycosides and other nuclear modifier genes play a modifying role in the phenotypic manifestation of the C1494T mutation in these Chinese families

  5. Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.

    Science.gov (United States)

    Moghadam, Keivan Kaveh; Pizza, Fabio; Tonon, Caterina; Lodi, Raffaele; Carelli, Valerio; Poli, Francesca; Franceschini, Christian; Barboni, Piero; Seri, Marco; Ferrari, Simona; La Morgia, Chiara; Testa, Claudia; Cornelio, Ferdinando; Liguori, Rocco; Winkelmann, Juliane; Lin, Ling; Mignot, Emmanuel; Plazzi, Giuseppe

    2014-05-01

    We aimed to report the clinical picture of two asymptomatic daughters of a patient with autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. Clinical assessment based on history, neurologic examination, sleep recordings, neurophysiologic neuroimaging, and genetic tests was performed. History and neurologic examination in both subjects were unremarkable. Genetic analysis disclosed in both the paternally-inherited heterozygous point mutation in the DNMT1 gene. Sleep recordings found sleep-onset rapid eye movement periods (SOREMPs) and proton magnetic resonance spectroscopy (MRS) revealed increased cerebellar myoinositol (mI) in both subjects. Auditory and ophthalmologic investigations as well as structural brain magnetic resonance imaging (MRI) scans revealed no abnormalities. The two asymptomatic carriers of the heterozygous DNMT1 mutation for ADCA-DN, a late-onset neurodegenerative disease, presented with SOREMPs associated with an increase of mI in the brain, a marker of glial cell activity and density characteristic of early stages of neurodegenerative diseases. Therefore, SOREMPs may precede the clinical picture of ADCA-DN as an early polysomnographic marker of central nervous system involvement detected by MRS. Copyright © 2014 Elsevier B.V. All rights reserved.

  6. Goiter and deaf mutism.

    Science.gov (United States)

    Thieme, E T

    1975-08-01

    The occurrence of deaf-mutism and goiter unassocaited with creatinism or mental retardation in euthyroid patients is known as Pendred's Syndrome. It is considered due to a single mutant recessive gene responsible for both the goiter and deafness. The penetrance is high, the intenseness of expressivity may vary within the same family and only one generation is affected. The extremely atypical hyperplasia seen in such goiters has been considered malignant. In 1956 the author reported a family in which 4 of 6 sibilings demonstrated Pendred's Syndrome. Three of the 4 had undergone thyroidectomy, two were considered to have carcinoma. Nineteen years later the family is again reported. The fourth sibling has recently undergone thyroidectomy. This thyroid demonstrated the same atypical hyperplasia as seen in the elder two siblings. The 19 year followup of this family has shown no evidence of recurrence or metastases, indicating that the atypical hyperplasia is probably not malignant. Pendred's Syndrome is described and certain suggestions are made for the counseling of the parents and the treatment and counseling of those children so afflicted.

  7. Supernumerary teeth in non-syndromic patients

    Energy Technology Data Exchange (ETDEWEB)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

    2012-03-15

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  8. Supernumerary teeth in non-syndromic patients

    International Nuclear Information System (INIS)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-01-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  9. Mutation Profile of the CDH23 Gene in 56 Probands with Usher Syndrome Type I

    Science.gov (United States)

    Oshima, A.; Jaijo, T.; Aller, E.; Millan, J.M.; Carney, C.; Usami, S.; Moller, C.; Kimberling, W.J.

    2008-01-01

    Mutations in the human gene encoding cadherin 23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss. Individuals with Usher syndrome type I have profound congenital deafness, vestibular areflexia and usually begin to exhibit signs of RP in early adolescence. In the present study, we carried out the mutation analysis in all 69 exons of the CDH23 gene in 56 Usher type 1 probands already screened for mutations in MYO7A. A total of 18 of 56 subjects (32.1%) were observed to have one or two CDH23 variants that are presumed to be pathologic. Twenty one different pathologic genome variants were observed of which 15 were novel. Out of a total of 112 alleles, 31 (27.7%) were considered pathologic. Based on our results it is estimated that about 20% of patients with Usher syndrome type I have CDH23 mutations. PMID:18429043

  10. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

    Science.gov (United States)

    Yu, Yongguo; Yao, RuEn; Wang, Lili; Fan, Yanjie; Huang, Xiaodong; Hirschhorn, Joel; Dauber, Andrew; Shen, Yiping

    2015-09-16

    Human height is a complex trait with a strong genetic basis. Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate genes in these rare CNVs are being explored. This study aims to evaluate the association between mutations in ARID1B gene and short stature, both the syndromic and non-syndromic form. Based on a case-control study of whole genome chromosome microarray analysis (CMA), three overlapping CNVs were identified in patients with developmental disorders who exhibited short stature. ARID1B, a causal gene for Coffin Siris syndrome, is the only gene encompassed by all three CNVs. A following retrospective genotype-phenotype analysis based on a literature review confirmed that short stature is a frequent feature in those Coffin-Siris syndrome patients with ARID1B mutations. Mutation screening of ARID1B coding regions was further conducted in a cohort of 48 non-syndromic short stature patients,andfour novel missense variants including two de novo mutations were found. These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. This study supports the notion that mutations in genes related to syndromic short stature may exert milder effect and contribute to short stature in the general population.

  11. THE DEAFNESS, THE DEAF AND HIS DISCURSE

    Directory of Open Access Journals (Sweden)

    Neuma Chaveiro

    2006-12-01

    Full Text Available ABSTRACT: The knowledge of LIBRAS – Brazilian Sign Language – is determining to the process of structuring the discursive formations and to the constitution of the deaf one. The present work aims to discuss the LIBRAS as an important tool of structuring the discursive of the deaf individual an as a facilitating factor in the description of his health problems. The data constitute two texts, one of them wrote by a deaf skilled in LIBRAS and the other wrote by a deaf who does not express himself in this kind of language. It was verified that the first text’s author is consistent, has mobility and moves easily through the discursive formations, but otherwise is the text belonging to the other patient. It can be stated that the Brazilian sign language – LIBRAS – is a decisive tool in the working out of the deaf discursive formations and the comprehension of his discourse by the health area professionals provide a larger understanding of the constitution of the deaf identity, a fundamental aspect for an improvement in the services offered in the health area. KEYWORDS: Deafness; Communication; Sign Language.

  12. Being a Deaf Role Model: Deaf People's Experiences of Working with Families and Deaf Young People

    Science.gov (United States)

    Rogers, Katherine D.; Young, Alys M.

    2011-01-01

    The experiences of being a deaf role model have been little explored in the literature. This paper explores the role of the deaf role model as perceived by d/Deaf adults who carried out this role, when working with deaf young people, parents of deaf children, and professionals who work with them. The data were collected from part of the evaluation…

  13. Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.

    Science.gov (United States)

    Schulze, Andreas; Bauman, Margaret; Tsai, Anne Chun-Hui; Reynolds, Ann; Roberts, Wendy; Anagnostou, Evdokia; Cameron, Jessie; Nozzolillo, Alixandra A; Chen, Shiyi; Kyriakopoulou, Lianna; Scherer, Stephen W; Loh, Alvin

    2016-01-01

    Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism. The goal of the study was to ascertain the prevalence of creatine deficiency syndromes (CDSs) in children with autism spectrum disorder (ASD). In a prospective multicenter study, 443 children were investigated after a confirmed diagnosis of ASD. Random spot urine screening for creatine metabolites (creatine, guanidinoacetate, creatinine, and arginine) with liquid chromatography-tandem mass spectrometry and second-tier testing with high-performance liquid chromatography methodology was followed by recall testing in 24-hour urines and confirmatory testing by Sanger-based DNA sequencing of GAMT, GATM, and SLC6A8 genes. Additional diagnostic tests included plasma creatine metabolites and in vivo brain proton magnetic resonance spectroscopy. The creatine metabolites in spot urine in the autism group were compared with 128 healthy controls controlled for age. In 443 subjects with ASD investigated for CDS, we had 0 events (event: 0, 95% confidence interval 0-0.0068), therefore with 95% confidence the prevalence of CDS is creatine metabolites (P > .0125) in urine. Our study revealed a very low prevalence of CDS in children with nonsyndromic ASD and no obvious association between creatine metabolites and autism. Unlike our study population, we expect more frequent CDS among children with severe developmental delay, speech impairment, seizures, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors. Copyright © 2016 by the American Academy of Pediatrics.

  14. A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).

    Science.gov (United States)

    Barashkov, Nikolay A; Klarov, Leonid A; Teryutin, Fedor M; Solovyev, Aisen V; Pshennikova, Vera G; Konnikova, Edilia E; Romanov, Georgii P; Tobokhov, Alexander V; Morozov, Igor V; Bondar, Alexander A; Posukh, Olga L; Dzhemileva, Lilya U; Tomsky, Mikhail I; Khusnutdinova, Elza K; Fedorova, Sardana A

    2018-01-01

    Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities ("corkscrew" cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Comprehensive clinical evaluation (CT and MR-imaging, audiological and stabilometric examinations) of available members of this family revealed both already known (mixed progressive hearing loss) and additional (enlargement of semicircular canals and postural disorders) clinical DFNX2 features in affected males with c.975G>A (p.Trp325*). Moreover, mild enlargement of semicircular canals, postural abnormalities and different types of hearing thresholds were found in female carrier of this POU3F4-variant. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID

    Directory of Open Access Journals (Sweden)

    Saleha Shamim

    2017-05-01

    Full Text Available Intellectual disability (ID is a neurodevelopmental disorder which appears frequently as the result of genetic mutations and may be syndromic (S-ID or non-syndromic (NS-ID. ID causes an important economic burden, for patient's family, health systems, and society. Identifying genes that cause S-ID can easily be evaluated due to the clinical symptoms or physical anomalies. However, in the case of NS-ID due to the absence of co-morbid features, the latest molecular genetic techniques can be used to understand the genetic defects that underlie it. Recent studies have shown that non-syndromic autosomal recessive (NS-ARID is extremely heterogeneous and contributes much more than X-linked ID. However, very little is known about the genes and loci involved in NS-ARID relative to X-linked ID, and whose complete genetic etiology remains obscure. In this review article, the known genetic etiology of NS-ARID and possible relationships between genes and the associated molecular pathways of their encoded proteins has been reviewed which will enhance our understanding about the underlying genes and mechanisms in NS-ARID.

  16. P2X2 Dominant Deafness Mutations Have No Negative Effect on Wild-Type Isoform: Implications for Functional Rescue and in Deafness Mechanism

    Directory of Open Access Journals (Sweden)

    Yan Zhu

    2017-11-01

    Full Text Available The P2X2 receptor is an ATP-gated ion channel, assembled by three subunits. Recently, it has been found that heterozygous mutations of P2X2 V60L and G353R can cause autosomal dominant nonsyndromic hearing loss. However, the underlying mechanism remains unclear. The fact that heterozygous mutations cause deafness suggests that the mutations may have dominant-negative effect (DNE on wild-type (WT P2X2 isoforms and/or other partners leading to hearing loss. In this study, the effect of these dominant deafness P2X2 mutations on WT P2X2 was investigated. We found that sole transfection of both V60L and G353R deafness mutants could efficiently target to the plasma membrane, like WT P2X2, but exhibit a significantly reduced response to ATP stimulation. Both mutants reduced the channel conductance, but G353R mutation also altered the voltage dependency. Co-expression with WT P2X2 could restore the response to ATP. As the ratio of WT P2X2 vs. mutants increased, the response to ATP was also increased. Computer modeling confirmed that both V60L and G353R dominant-deafness mutant subunits do not have any negative effect on WT P2X2 subunit, when assembled as a heterotrimer. Improper docking or defective gating is the more likely mechanism for impaired channel function by these P2X2 deafness mutations. These results suggest that P2X2 dominant deafness mutations do not have negative effects on WT P2X2 isoforms, and that adding additional WT P2X2 could rescue the lost channel function caused by the deafness mutations. These P2X2 dominant deafness mutations may have negative-effects on other partners leading to hearing loss.

  17. Deaf Sociality and the Deaf Lutheran Church in Adamorobe, Ghana

    Science.gov (United States)

    Kusters, Annelies

    2014-01-01

    This article provides an ethnographic analysis of "deaf sociality" in Adamorobe, a village in Ghana, where the relatively high prevalence of hereditary deafness has led to dense social and spatial connections. Deaf people are part of their hearing environment particularly through family networks, and produce deaf sociality through many…

  18. Deaf Autism: Common Instructional Practices Described by Deaf Educators

    Science.gov (United States)

    Rutledge, Felicia

    2017-01-01

    The purpose of this research study was to identify common instructional practices described by teachers of the deaf with students who are deaf with autism that increase both student engagement and instructional outcomes. As the diversity of students increase within deaf/hard of hearing programs, research is emerging in the area of deaf autism.…

  19. Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

    Directory of Open Access Journals (Sweden)

    Amina Bakhchane

    Full Text Available The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B. Here, we report the results of genetic analyses performed on Moroccan families with autosomal recessive non syndromic hearing loss that identified two families with compound heterozygous MYO7A mutations. Five mutations (c.6025delG, c.6229T>A, c.3500T>A, c.5617C>T and c.4487C>A were identified in these families, the latter presenting two differently affected branches. Multiple bioinformatics programs and molecular modelling predicted the pathogenic effect of these mutations. In conclusion, the absence of vestibular and retinal symptom in the affected patients suggests that these families have the isolated non-syndromic hearing loss DFNB2 (nonsyndromic autosomal recessive hearing loss presentation, instead of USH1B.

  20. Deafness and Hearing Loss.

    Science.gov (United States)

    National Information Center for Children and Youth with Disabilities, Washington, DC.

    This brief overview provides information on the definition, incidence, and characteristics of children with hearing impairments and deafness. The federal definitions of hearing impairment and deafness are provided. The different types of hearing loss are noted, including: (1) conductive (caused by diseases or obstructions in the outer or middle…

  1. Deaf Culture. NETAC Teacher Tipsheet

    Science.gov (United States)

    Siple, Linda; Greer, Leslie; Holcomb, Barbara Ray

    2004-01-01

    It often comes as a surprise to people that many deaf people refer to themselves as being members of Deaf culture. The American Deaf culture is a unique linguistic minority that uses American Sign Language (ASL) as its primary mode of communication. This tipsheet provides a description of Deaf culture and suggestions for effective communication.

  2. Deaf/Hearing Research Partnerships

    Science.gov (United States)

    Wolsey, Ju-Lee A.; Misener Dunn, Kim; Gentzke, Scott W.; Joharchi, Hannah A.; Clark, M. Diane

    2017-01-01

    Deaf individuals typically are seen through the lens of the dominant hearing society's perception, i.e., that being deaf is an impairment. Today, a small but growing number of Deaf and hearing researchers are challenging this perception. The authors examined perceptions of what components are necessary for a successful Deaf/hearing research…

  3. A Danish family with dominant deafness-onychodystrophy syndrome

    DEFF Research Database (Denmark)

    Vind-Kezunovic, Dina; Torring, Pernille M

    2013-01-01

    The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the disorder remains unknown.......The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the disorder remains unknown....

  4. Comparing Motor Development of Deaf Children of Deaf Parents and Deaf Children of Hearing Parents

    Science.gov (United States)

    Lieberman, Lauren J.; Volding, Lori; Winnick, Joseph P.

    2004-01-01

    Deaf children of Deaf parents perform better academically (Ritter-Brinton & Stewart, 1992), linguistically (Courtin, 2000; M. Harris, 2001; Vaccari & Marschark, 1997), and socially (Hadadian & Rose, 1991; M. Harris, 2001) than Deaf children of hearing parents. Twenty-nine Deaf children in residential schools were assessed to determine if a…

  5. Language and cognitive development in deaf children: deaf children with deaf and deaf children with hearing parents

    OpenAIRE

    Ajda Pfifer

    2011-01-01

    The article reviews the current studies regarding language and cognitive development in children who are deaf. Deaf communicate orally and with sign language. 90 % of deaf children are born into hearing families and hearing parents in most cases do not know the sign language. Besides, hearing parents usually want for their child to become "normally" speaking. Most of the deaf children born into hearing families have very poor early communication. It is now well established that deaf children ...

  6. Investigação genética da surdez hereditária: mutação do gene da Conexina 26 Genetic investigation of hereditary deafness: connexin 26 gene mutation

    Directory of Open Access Journals (Sweden)

    Paula Michele da Silva Schmidt

    2009-01-01

    Full Text Available Nos últimos anos houve grande progresso na localização de genes associados à deficiência auditiva hereditária, possibilitando diagnósticos cada vez mais precisos e precoces. Mutações no gene da Conexina 26 (GJB2 - Cx26 causam deficiência auditiva. Pela facilidade e benefício do rastreamento de mutações no gene GJB2, o teste genético está se tornando um importante recurso na saúde pública. O objetivo foi realizar pesquisa bibliográfica sobre a mutação do gene da Conexina 26 e sua influência na audição. Foi realizado um levantamento bibliográfico por meio de busca eletrônica utilizando os descritores: perda auditiva, genética, triagem genética, Conexina 26, nas bases de dados MEDLINE, SciELO e LILACS, desde a década de 90 até os dias atuais. Concluiu-se que a mutação 35delG da Conexina 26 está potencialmente vinculada a alguns casos de perda auditiva não esclarecida. A pesquisa desta mutação poderia ser incluída na bateria de exames de investigação etiológica da surdez indeterminada, uma vez que esclarece a etiologia de alguns casos e a sua identificação possibilita o aconselhamento genético.In the last few years, great progress has been made in the search for genes associated to hereditary hearing impairment, allowing more precise and earlier diagnosis. Connexin 26 gene mutations (GJB2 - Cx26 cause hearing impairment. Due to the easiness and benefits of the screening of mutations on the gene GJB2, genetic testing is becoming an important resource in public health. The aim of the present study was to conduct a literature research about the mutation of the Connexin 26 gene and its influence in hearing. It was carried out a literature review through electronic search using the keywords: hearing loss, genetics, genetic screening, and Connexin 26, at the databases MEDLINE, SciELO and LILACS, from the 90s to the present days. The results indicate that the 35delG mutation of Connexin 26 is potentially associated

  7. Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia.

    Science.gov (United States)

    Zhang, Xiao Xia; Wong, Sing Wai; Han, Dong; Feng, Hai Lan

    2015-01-01

    To describe the simultaneous occurence of an autosomal dominant inherited MSX1 mutation and an X-linked recessive inherited EDA mutation in one Chinese family with nonsyndromic oligodontia. Clinical data of characteristics of tooth agenesis were collected. MSX1 and EDA gene mutations were detected in a Chinese family of non-syndromic oligodontia. Mild hypodontia in the parents and severe oligodontia in the son was recorded. A novel missense heterozygous mutation c.517C>A (p.Arg173Ser) was detected in the MSX1 gene in the boy and the father. A homozygous missense mutation c.1001G>A (p.Arg334His) was detected in the EDA gene in the boy and the same mutant occurred heterozygously in the mother. Simultaneous occurence of two different gene mutations with different inheritence patterns, which both caused oligodontia, which occurred in one subject and in one family, was reported.

  8. Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.

    Science.gov (United States)

    Barashkov, Nikolay A; Dzhemileva, Lilya U; Fedorova, Sardana A; Teryutin, Fedor M; Posukh, Olga L; Fedotova, Elvira E; Lobov, Simeon L; Khusnutdinova, Elza K

    2011-09-01

    Hereditary forms of hearing impairment (HI) caused by GJB2 (Cx26) mutations are the frequent sensory disorders registered among newborns in various human populations. In this study, we present data on the molecular, audiological and population features of autosomal recessive deafness 1A (DFNB1A) associated with the donor splicing site IVS1+1G>A mutation of GJB2 gene in Yakut population isolate of the Sakha Republic (Yakutia) located in Eastern Siberia (Russian Federation). The Yakut population exhibits high frequency of some Mendelian disorders, which are rare in other populations worldwide. Mutational analysis of GJB2 gene in 86 unrelated Yakut patients with congenital HI without other clinical features has been performed. In this study, we registered a large cohort of Yakut patients homozygous for the IVS1+1G>A mutation (70 unrelated deaf subjects in total). Detailed audiological analysis of 40 deaf subjects with genotype IVS1+1G>A/IVS1+1G>A revealed significant association of this genotype with mostly symmetrical bilateral severe to profound HI (85% severe-to-profound HI versus 15% mild-to-moderate HI, PA mutation (11.7%) has been found in Yakut population. Reconstruction of 140 haplotypes with IVS1+1G>A mutation demonstrates the common origin of all mutant chromosomes found in Yakuts. The age of mutation was estimated to be approximately 800 years. These findings characterize Eastern Siberia as the region with the most extensive accumulation of the IVS1+1G>A mutation in the world as a result of founder effect.

  9. Concordance of MRI and EEG Focal Slowing in Nonsyndromic Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-04-01

    Full Text Available Investigators at the Kangwon National University, Korea, and The Epilepsy Center, Lurie Children’s Hospital of Chicago, USA studied the correlation and significance of EEG focal slowing and focal MRI abnormalities in 253 children with nonsyndromic epilepsy.

  10. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome

    DEFF Research Database (Denmark)

    Koppelhus, Uffe; Tranebjaerg, L; Esberg, G

    2011-01-01

    Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal disorder, caused by heterozygous missense mutation in GJB2, encoding the gap junction protein connexin 26. The commonest mutation is the p.Asp50Asn mutation, and only a few other mutations have been described to date....

  11. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

    Science.gov (United States)

    Griesi-Oliveira, Karina; Acab, Allan; Gupta, Abha R.; Sunaga, Daniele Yumi; Chailangkarn, Thanathom; Nicol, Xavier; Nunez, Yanelli; Walker, Michael F.; Murdoch, John D.; Sanders, Stephan J.; Fernandez, Thomas V.; Ji, Weizhen; Lifton, Richard P.; Vadasz, Estevão; Dietrich, Alexander; Pradhan, Dennis; Song, Hongjun; Ming, Guo-li; Guoe, Xiang; Haddad, Gabriel; Marchetto, Maria C. N.; Spitzer, Nicholas; Passos-Bueno, Maria Rita; State, Matthew W.; Muotri, Alysson R.

    2014-01-01

    An increasing number of genetic variants have been implicated in autism spectrum disorders (ASD), and the functional study of such variants will be critical for the elucidation of autism pathophysiology. Here, we report a de novo balanced translocation disruption of TRPC6, a cation channel, in a non-syndromic autistic individual. Using multiple models, such as dental pulp cells, iPSC-derived neuronal cells and mouse models, we demonstrate that TRPC6 reduction or haploinsufficiency leads to altered neuronal development, morphology, and function. The observed neuronal phenotypes could then be rescued by TRPC6 complementation and by treatment with IGF1 or hyperforin, a TRPC6-specific agonist, suggesting that ASD individuals with alterations in this pathway might benefit from these drugs. We also demonstrate that MeCP2 levels affect TRPC6 expression. Mutations in MeCP2 cause Rett syndrome, revealing common pathways among ASDs. Genetic sequencing of TRPC6 in 1041 ASD individuals and 2872 controls revealed significantly more nonsynonymous mutations in the ASD population, and identified loss-of-function mutations with incomplete penetrance in two patients. Taken together, these findings suggest that TRPC6 is a novel predisposing gene for ASD that may act in a multiple-hit model. This is the first study to use iPSC-derived human neurons to model non-syndromic ASD and illustrate the potential of modeling genetically complex sporadic diseases using such cells. PMID:25385366

  12. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.

    Science.gov (United States)

    Houge, G; Rasmussen, I H; Hovland, R

    2012-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the post-synaptic density, and a role in RAS/MAPK-dependent signal transduction.

  13. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

    OpenAIRE

    Houge, G.; Rasmussen, I.H.; Hovland, R.

    2011-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the pos...

  14. Non-syndromic multiple keratocyst odontogenic tumor: A rare case report

    Directory of Open Access Journals (Sweden)

    Abhijeet Alok

    2015-01-01

    Full Text Available Keratocystic odontogenic tumors (KCOTs are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBCCS. The condition is linked with mutation in the PTCH gene. Partial expression of the gene may result in occurrence of multiple recurring odontogenic keratocysts (OKCs. Although KCOTs are common in clinical practice, simultaneous occurrence of multiple cysts in both the maxilla and mandible of a patient is rare. These patients have early propensity to develop multiple neoplasms like basal cell carcinoma and medulloblastoma. Hence, early diagnosis and treatment is of utmost importance in reducing the severity of the long-term sequelae of NBCCS. We report a rare case of multiple KCOTs in a non-syndromic male patient, with emphasis on its diagnosis, radiographic features, and treatment.

  15. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

    Science.gov (United States)

    Ebermann, Inga; Scholl, Hendrik P N; Charbel Issa, Peter; Becirovic, Elvir; Lamprecht, Jürgen; Jurklies, Bernhard; Millán, José M; Aller, Elena; Mitter, Diana; Bolz, Hanno

    2007-04-01

    Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP). The seven proteins that have been identified for Usher syndrome type 1 (USH1) and type 2 (USH2) may interact in a large protein complex. In order to identify novel USH genes, we followed a candidate strategy, assuming that mutations in proteins interacting with this "USH network" may cause Usher syndrome as well. The DFNB31 gene encodes whirlin, a PDZ scaffold protein with expression in both hair cell stereocilia and retinal photoreceptor cells. Whirlin represents an excellent candidate for USH2 because it binds to Usherin (USH2A) and VLGR1b (USH2C). Genotyping of microsatellite markers specific for the DFNB31 gene locus on chromosome 9q32 was performed in a German USH2 family that had been excluded for all known USH loci. Patients showed common haplotypes. Sequence analysis of DFNB31 revealed compound heterozygosity for a nonsense mutation, p.Q103X, in exon 1, and a mutation in the splice donor site of exon 2, c.837+1G>A. DFNB31 mutations appear to be a rare cause of Usher syndrome, since no mutations were identified in an additional 96 USH2 patients. While mutations in the C-terminal half of whirlin have previously been reported in non-syndromic deafness (DFNB31), both alterations identified in our USH2 family affect the long protein isoform. We propose that mutations causing Usher syndrome are probably restricted to exons 1-6 that are specific for the long isoform and probably crucial for retinal function. We describe a novel genetic subtype for Usher syndrome, which we named USH2D and which is caused by mutations in whirlin. Moreover, this is the first case of USH2 that is allelic to non-syndromic deafness.

  16. Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology

    DEFF Research Database (Denmark)

    Engl, Gertraud; Florian, Stefan; Tranebjærg, Lisbeth

    2012-01-01

    Deafness-Dystonia-Optic Neuropathy (DDON) Syndrome is a rare X-linked progressive neurodegenerative disorder resulting from mutations in the TIMM8A gene encoding for the deafness dystonia protein 1 (DDP1). Despite important progress in identifying and characterizing novel mutations in this gene...

  17. Research on Deafness

    Science.gov (United States)

    Ramsey, Collette

    1970-01-01

    Paper presented at the Summer Meeting of the Alexander Graham Bell Association (Philadelphia, June 24-27, 1970) in which the author reviews the research supported by The Deafness Research Foundation. (RD)

  18. Hearing Disorders and Deafness

    Science.gov (United States)

    ... enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to ... often be helped. Deafness can keep you from hearing sound at all. What causes hearing loss? Some ...

  19. GJB2 and GJB6 gene mutations found in Indian probands with ...

    Indian Academy of Sciences (India)

    of milestones (table 1), birth ranks of the probands (table 2), parental age at the ... pital, Hyderabad, India, and schools for deaf that are in and around the district of .... nonsyndromic hearing loss and in normal hearing controls. No. of. No. of.

  20. Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

    Science.gov (United States)

    Sharon, Dror; Banin, Eyal

    2015-01-01

    Nonsyndromic retinitis pigmentosa (RP) is the most common inherited retinal degeneration, and prevalence of the disease has been reported in populations of American and European origin with a relatively low consanguinity rate. Our aim was to determine the prevalence of nonsyndromic RP in the Jerusalem region, which has a population of about 1 million individuals with a high rate of consanguinity. The patients' clinical data included eye exam findings (visual acuity, anterior segment, and funduscopy) as well as electroretinographic (ERG) testing results under scotopic and photopic conditions. Mutation analysis on a subgroup of patients was performed mainly with candidate gene analysis and homozygosity mapping. We evaluated the medical records of patients with degenerative retinal diseases residing in the Jerusalem region who were examined over the past 20 years in a large tertiary medical center. A total of 453 individuals affected with nonsyndromic RP were diagnosed at our center, according to funduscopic findings and ERG testing. Based on the estimated population size of 945,000 individuals who reside in the vicinity of Jerusalem, the prevalence of nonsyndromic RP in this region is 1:2,086. The prevalence of RP was higher among Arab Muslims (1:1,798) compared to Jews (1:2,230), mainly due to consanguineous marriages that are more common in the Arab Muslim population. To identify the genetic causes of RP in our cohort, we recruited 383 patients from 183 different families for genetic analysis: 70 with autosomal recessive (AR) inheritance, 15 with autosomal dominant, 86 isolate cases, and 12 with an X-linked inheritance pattern. In 64 (35%) of the families, we identified the genetic cause of the disease, and we revised the inheritance pattern of 20 isolate cases to the AR pattern; 49% of the families in our cohort had AR inheritance. Interestingly, in 42 (66%) of the genetically identified families, the cause of disease was a founder mutation. Previous studies

  1. IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in south Indian population.

    Science.gov (United States)

    Gurramkonda, Venkatesh Babu; Syed, Altaf Hussain; Murthy, Jyotsna; Lakkakula, Bhaskar V K S

    2017-06-26

    Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. We aimed to investigate the association of IRF6 intron-6 polymorphism in the non-syndromic cleft lip with or without Palate in a south Indian population. 173 unrelated nonsyndromic cleft lip with or without Palate patients and 176 controls without clefts patients were genotyped for IRF6 rs2235375 variant by allele-specific amplification using the KASPar single nucleotide polymorphism genotyping system. The association between interferon regulatory factor-6 gene intron-6 dbSNP208032210:g.G>C (rs2235375) single nucleotide polymorphism and non-syndromic cleft lip with or without palate risk was investigated by chi-square test. There were significant differences in genotype or allele frequencies of rs2235375 single nucleotide polymorphism between controls and cases with non-syndromic cleft lip with or without palate. IRF6 rs2235375 variant was significantly associated with increased risk of non-syndromic cleft lip with or without palate in co-dominant, dominant (OR: 1.19; 95% CI 1.03-2.51; p=0.034) and allelic models (OR: 1.40; 95% CI 1.04-1.90; p=0.028). When subset analysis was applied significantly increased risk was observed in cleft palate only group (OR dominant: 4.33; 95% CI 1.44-12.97; p=0.005). These results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  2. Prevalence of consanguineous marriage among parents of deaf and normal children in Ardabil, North Western Iran

    OpenAIRE

    Shahrooz Nemati; Gholam Ali Afrooz; Ali Asgari; Bagher Ghobari Bonab

    2012-01-01

    Background and Aim: Having healthy non-handicapped children plays a major role in mental health of the family and decreases family and society's costs. While consanguineous marriage could lead to expression of recessive genes and a variety of handicaps including deafness, the aim of present study was to scrutinize the prevalence of consanguineous marriage among parents of deaf and normal children as well as its relationship with deafness.Methods: In this study, 467 couples parenting normal ch...

  3. Arts Accessibility for the Deaf.

    Science.gov (United States)

    Bergman, Eugene

    The booklet provides information and resources for cultural organizations and institutions interested in making the arts accessible to deaf citizens. Preliminary information includes a discussion of deafness in America and the deaf in the history of the arts and notes that the era of silent films was the golden age of cinema. Listed are 36…

  4. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

    NARCIS (Netherlands)

    Bespalova, I.N.; Camp, G. van; Bom, S.J.H.; Brown, D.J.; Cryns, K.; Wan, A.T. de; Erson, A.E.; Flothmann, K.; Kunst, H.P.M.; Kurnool, P.; Sivakumaran, T.A.; Cremers, C.W.R.J.; Leal, S.M.; Burmeister, M.; Lesperance, M.M.

    2001-01-01

    Non-syndromic low frequency sensorineural hearing loss (LFSNHL) affecting only 2000 Hz and below is an unusual type of hearing loss that worsens over time without progressing to profound deafness. This type of LFSNHL may be associated with mild tinnitus but is not associated with vertigo. We have

  5. [Deafness and sarcoidosis].

    Science.gov (United States)

    Moine, A; Frachet, B; Van Den Abbeele, T; Tison, P; Battesti, J P

    1990-01-01

    The cochleovestibular tract is seldom involved by sarcoidosis (about 50 cases have been described since 1948). As a clinical expression of sarcoidosis, deafness is fluctuant in 50% of all cases, bilateral, and most often associated with facial palsy and uveitis, the vestibular reflexes being reduced. The histological studies demonstrate lesions at all levels from the cochlea to be brain stem, but the main mechanism is an infiltration of the arachnoid vessels. The prognosis of sarcoidosis deafness is usually poor in spite of corticosteroid therapy. This paper is illustrated by 3 cases observed in Avicenne Hospital.

  6. Supporting Deaf Students--and All Students

    Science.gov (United States)

    Yuknis, Christina; Santini, Joseph; Appanah, Thangi

    2017-01-01

    Two faculty members and a Ph.D. student at Gallaudet University, the world's only university for the deaf, explain the concept of Deaf-Gain, which reframes the idea of hearing loss into one of gaining deafness and recognizes the contributions that deaf people make to society. This narrative assumes that deaf students and all students bring…

  7. CLRN1 mutations cause nonsyndromic retinitis pigmentosa

    NARCIS (Netherlands)

    Khan, M.I.; Kersten, F.F.J.; Azam, M.; Collin, R.W.J.; Hussain, A.; Shah, S.T.; Keunen, J.E.E.; Kremer, J.M.J.; Cremers, F.P.M.; Qamar, R.; Hollander, A.I. den

    2011-01-01

    OBJECTIVE: To describe the mutations in the CLRN1 gene in patients from 2 consanguineous Pakistani families diagnosed with autosomal recessive retinitis pigmentosa (arRP). DESIGN: Case-series study. PARTICIPANTS: Affected and unaffected individuals of 2 consanguineous Pakistani families and 90

  8. Protein implicated in nonsyndromic mental retardation regulates protein kinase A (PKA) activity

    KAUST Repository

    Altawashi, Azza

    2012-02-28

    Mutation of the coiled-coil and C2 domain-containing 1A (CC2D1A) gene, which encodes a C2 domain and DM14 domain-containing protein, has been linked to severe autosomal recessive nonsyndromic mental retardation. Using a mouse model that produces a truncated form of CC2D1A that lacks the C2 domain and three of the four DM14 domains, we show that CC2D1A is important for neuronal differentiation and brain development. CC2D1A mutant neurons are hypersensitive to stress and have a reduced capacitytoformdendritesandsynapsesinculture. Atthebiochemical level,CC2D1Atransduces signals to the cyclic adenosine 3?,5?-monophosphate (cAMP)-protein kinase A (PKA) pathway during neuronal cell differentiation. PKA activity is compromised, and the translocation of its catalytic subunit to the nucleus is also defective in CC2D1A mutant cells. Consistently, phosphorylation of the PKA target cAMP-responsive element-binding protein, at serine 133, is nearly abolished in CC2D1A mutant cells. The defects in cAMP/PKA signaling were observed in fibroblast, macrophage, and neuronal primary cells derived from the CC2D1A KO mice. CC2D1A associates with the cAMP-PKA complex following forskolin treatment and accumulates in vesicles or on the plasma membrane in wild-type cells, suggesting that CC2D1A may recruit the PKA complex to the membrane to facilitate signal transduction. Together, our data show that CC2D1A is an important regulator of the cAMP/PKA signaling pathway, which may be the underlying cause for impaired mental function in nonsyndromic mental retardation patients with CC2D1A mutation. 2012 by The American Society for Biochemistry and Molecular Biology, Inc.

  9. Psychodrama with Deaf People

    Science.gov (United States)

    Clayton, Lynette; Robinson, Luther D.

    1971-01-01

    Observations based on psychodrama with deaf people, relating to interaction between people and the communication process, are made. How role training skills, which involve some of the skills of psychodrama, can be applied by professionals in vocational and social learning situations is illustrated. (KW)

  10. Children of Deaf Adults

    NARCIS (Netherlands)

    van den Bogaerde, B.; Baker, A.E.; Gertz, G.; Boudreault, P.

    2016-01-01

    The hearing children of Deaf parents grow up in two cultures with two languages. They are similar to other bilingual, bicultural children in many ways but are special also. They can be in conflict between two worlds and often carry an extra burden of responsibility in functioning as a bridge between

  11. Sampling the Deaf Experience.

    Science.gov (United States)

    Teller, Henry E.; And Others

    1993-01-01

    Two graduate students in deaf education wore ear plugs for two months to simulate hearing loss, and recorded their experiences and feelings. Excerpts from their journals are presented, commenting on such daily activities as shopping at a mall, watching television, driving, babysitting, and attending a football game. (JDD)

  12. Pedophilia and Deafness.

    Science.gov (United States)

    Vernon, McCay; Rich, Steve

    1997-01-01

    Data from 22 cases of individuals with deafness suffering from pedophilia indicate a number of factors that distinguish them from hearing pedophiles. Differences include a prevalence of Primitive Personality Disorder, a high rate of brain damage, illiteracy, poorer communication skills, and psychiatric illnesses. Legal issues, prevention, and…

  13. Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26–q27 in a Consanguineous Kindred from Pakistan

    Science.gov (United States)

    Ansar, Muhammad; Ramzan, Mohammad; Pham, Thanh L.; Yan, Kai; Jamal, Syed Muhammad; Haque, Sayedul; Ahmad, Wasim; Leal, Suzanne M.

    2010-01-01

    For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26–q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26–q27 (Multipoint lod score 3.6). The genetic region for DFNB38 spans 10.1 cM according to the Marshfield genetic map and is bounded by markers D6S980 and D6S1719. This genetic region corresponds to 3.4 MB on the sequence-based physical map. PMID:12890929

  14. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

    Science.gov (United States)

    Lenassi, Eva; Vincent, Ajoy; Li, Zheng; Saihan, Zubin; Coffey, Alison J; Steele-Stallard, Heather B; Moore, Anthony T; Steel, Karen P; Luxon, Linda M; Héon, Elise; Bitner-Glindzicz, Maria; Webster, Andrew R

    2015-01-01

    Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we screened USH2A in 186 probands with recessive retinal disease and no hearing complaint in childhood (discovery cohort) and in 84 probands with recessive retinal disease (replication cohort). Detailed phenotyping, including retinal imaging and audiological assessment, was performed in individuals with two likely disease-causing USH2A variants. Further genetic testing, including screening for a deep-intronic disease-causing variant and large deletions/duplications, was performed in those with one likely disease-causing change. Overall, 23 of 186 probands (discovery cohort) were found to harbour two likely disease-causing variants in USH2A. Some of these variants were predominantly associated with nonsyndromic retinal degeneration (‘retinal disease-specific'); these included the common c.2276 G>T, p.(Cys759Phe) mutation and five additional variants: c.2802 T>G, p.(Cys934Trp); c.10073 G>A, p.(Cys3358Tyr); c.11156 G>A, p.(Arg3719His); c.12295-3 T>A; and c.12575 G>A, p.(Arg4192His). An allelic hierarchy was observed in the discovery cohort and confirmed in the replication cohort. In nonsyndromic USH2A disease, retinopathy was consistent with retinitis pigmentosa and the audiological phenotype was variable. USH2A retinopathy is a common cause of nonsyndromic recessive retinal degeneration and has a different mutational spectrum to that observed in Usher syndrome. The following model is proposed: the presence of at least one ‘retinal disease-specific' USH2A allele in a patient with USH2A-related disease results in the preservation of normal hearing. Careful genotype–phenotype studies such as this will become increasingly important, especially now that high-throughput sequencing is widely used in the clinical setting. PMID:25649381

  15. DEAFNESS, RETELLING AND READER FOMATION

    Directory of Open Access Journals (Sweden)

    José Marcos Rosendo de Souza

    2016-07-01

    Full Text Available Research on formation of readers has raised some discussions and change of atitudes, to the development of full readers. But, the methodologies that strive for proficiency of Deaf readers there are scarse. We intend to discuss in this article the formation of a reader Deaf through from an interventional research, with cognitive approach. The reader formation of Deaf will be possible with appropriate method to their peculiarities.

  16. A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with sever nephropathy

    International Nuclear Information System (INIS)

    Tabebi, Mouna; Mkaouar-Rebai, Emna; Mnif, Mouna; Kallabi, Fakhri; Ben Mahmoud, Afif; Ben Saad, Wafa; Charfi, Nadia; Keskes-Ammar, Leila; Kamoun, Hassen; Abid, Mohamed; Fakhfakh, Faiza

    2015-01-01

    Mitochondrial diabetes (MD) is a heterogeneous disorder characterized by a chronic hyperglycemia, maternal transmission and its association with a bilateral hearing impairment. Several studies reported mutations in mitochondrial genes as potentially pathogenic for diabetes, since mitochondrial oxidative phosphorylation plays an important role in glucose-stimulated insulin secretion from beta cells. In the present report, we studied a Tunisian family with mitochondrial diabetes (MD) and deafness associated with nephropathy. The mutational analysis screening revealed the presence of a novel heteroplasmic mutation m.9276G>C in the mitochondrial COIII gene, detected in mtDNA extracted from leukocytes of a mother and her two daughters indicating that this mutation is maternally transmitted and suggest its implication in the observed phenotype. Bioinformatic tools showed that m.9267G>C mutation (p.A21P) is « deleterious » and it can modify the function and the stability of the MT-COIII protein by affecting the assembly of mitochondrial COX subunits and the translocation of protons then reducing the activity of the respective OXPHOS complexes of ATP synthesis. The nonsynonymous mutation (p.A21P) has not been reported before, it is the first mutation described in the COXIII gene which is related to insulin dependent mitochondrial diabetes and deafness and could be specific to the Tunisian population. The m.9267G>C mutation was present with a nonsynonymous inherited mitochondrial homoplasmic variation MT-COI m.5913 G>A (D4N) responsible of high blood pressure, a clinical feature detected in all explored patients. - Highlights: • MT-COX3 m.9267G>C (p.A21P), heteroplasmic substitution, is not reported in any database. • m.9267G>C can be responsible of the MIDD associated with nephropaty. • This substitution can modify the function and the stability of the MT-CO3 protein. • This substitution can modify MT-CO3 structure (2D and 3D). • MT-COX3 m.9267G>C is associated

  17. A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with sever nephropathy

    Energy Technology Data Exchange (ETDEWEB)

    Tabebi, Mouna, E-mail: mouna.biologiste@yahoo.com [Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax (Tunisia); Mkaouar-Rebai, Emna [Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax (Tunisia); Mnif, Mouna [Service d' endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Kallabi, Fakhri; Ben Mahmoud, Afif [Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax (Tunisia); Ben Saad, Wafa; Charfi, Nadia [Service d' endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Keskes-Ammar, Leila; Kamoun, Hassen [Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax (Tunisia); Abid, Mohamed [Service d' endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Fakhfakh, Faiza, E-mail: faiza.fakhfakh@gmail.com [Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax (Tunisia)

    2015-04-10

    Mitochondrial diabetes (MD) is a heterogeneous disorder characterized by a chronic hyperglycemia, maternal transmission and its association with a bilateral hearing impairment. Several studies reported mutations in mitochondrial genes as potentially pathogenic for diabetes, since mitochondrial oxidative phosphorylation plays an important role in glucose-stimulated insulin secretion from beta cells. In the present report, we studied a Tunisian family with mitochondrial diabetes (MD) and deafness associated with nephropathy. The mutational analysis screening revealed the presence of a novel heteroplasmic mutation m.9276G>C in the mitochondrial COIII gene, detected in mtDNA extracted from leukocytes of a mother and her two daughters indicating that this mutation is maternally transmitted and suggest its implication in the observed phenotype. Bioinformatic tools showed that m.9267G>C mutation (p.A21P) is « deleterious » and it can modify the function and the stability of the MT-COIII protein by affecting the assembly of mitochondrial COX subunits and the translocation of protons then reducing the activity of the respective OXPHOS complexes of ATP synthesis. The nonsynonymous mutation (p.A21P) has not been reported before, it is the first mutation described in the COXIII gene which is related to insulin dependent mitochondrial diabetes and deafness and could be specific to the Tunisian population. The m.9267G>C mutation was present with a nonsynonymous inherited mitochondrial homoplasmic variation MT-COI m.5913 G>A (D4N) responsible of high blood pressure, a clinical feature detected in all explored patients. - Highlights: • MT-COX3 m.9267G>C (p.A21P), heteroplasmic substitution, is not reported in any database. • m.9267G>C can be responsible of the MIDD associated with nephropaty. • This substitution can modify the function and the stability of the MT-CO3 protein. • This substitution can modify MT-CO3 structure (2D and 3D). • MT-COX3 m.9267G>C is associated

  18. Congenital sensorineural deafness in Australian stumpy-tail cattle dogs is an autosomal recessive trait that maps to CFA10.

    Directory of Open Access Journals (Sweden)

    Susan Sommerlad

    2010-10-01

    speckling. Fine mapping was then performed on 45 of these 50 dogs and a further 48 dogs (n = 93. Sequencing candidate gene Sox10 in 6 hearing ASCD, 2 unilaterally deaf ASCD and 2 bilaterally deaf ASCD did not reveal any disease-associated mutations.Deafness in ASCD is an incompletely penetrant autosomal recessive inherited disease that maps to CFA10.

  19. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

    Science.gov (United States)

    Mangold, Elisabeth; Böhmer, Anne C.; Ishorst, Nina; Hoebel, Ann-Kathrin; Gültepe, Pinar; Schuenke, Hannah; Klamt, Johanna; Hofmann, Andrea; Gölz, Lina; Raff, Ruth; Tessmann, Peter; Nowak, Stefanie; Reutter, Heiko; Hemprich, Alexander; Kreusch, Thomas; Kramer, Franz-Josef; Braumann, Bert; Reich, Rudolf; Schmidt, Gül; Jäger, Andreas; Reiter, Rudolf; Brosch, Sibylle; Stavusis, Janis; Ishida, Miho; Seselgyte, Rimante; Moore, Gudrun E.; Nöthen, Markus M.; Borck, Guntram; Aldhorae, Khalid A.; Lace, Baiba; Stanier, Philip; Knapp, Michael; Ludwig, Kerstin U.

    2016-01-01

    Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, ∼5% of VWS-affected individuals were identified with mutations in the grainy head-like 3 gene (GRHL3). To investigate GRHL3 in nonsyndromic clefting, we sequenced its coding region in 576 Europeans with nsCL/P and 96 with nsCPO. Most strikingly, nsCPO-affected individuals had a higher minor allele frequency for rs41268753 (0.099) than control subjects (0.049; p = 1.24 × 10−2). This association was replicated in nsCPO/control cohorts from Latvia, Yemen, and the UK (pcombined = 2.63 × 10−5; ORallelic = 2.46 [95% CI 1.6–3.7]) and reached genome-wide significance in combination with imputed data from a GWAS in nsCPO triads (p = 2.73 × 10−9). Notably, rs41268753 is not associated with nsCL/P (p = 0.45). rs41268753 encodes the highly conserved p.Thr454Met (c.1361C>T) (GERP = 5.3), which prediction programs denote as deleterious, has a CADD score of 29.6, and increases protein binding capacity in silico. Sequencing also revealed four novel truncating GRHL3 mutations including two that were de novo in four families, where all nine individuals harboring mutations had nsCPO. This is important for genetic counseling: given that VWS is rare compared to nsCPO, our data suggest that dominant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO. Thus, with rare dominant mutations and a common risk variant in the coding region, we have identified an important contribution for GRHL3 in nsCPO. PMID:27018475

  20. Is Celiac Disease an Etiological Factor in Children with Nonsyndromic Intellectual Disability?

    Science.gov (United States)

    Sezer, Taner; Balcı, Oya; Özçay, Figen; Bayraktar, Nilufer; Alehan, Füsun

    2016-03-01

    To determine the prevalence of celiac disease in children and adolescents with nonsyndromic intellectual disability, we investigated serum levels of tissue transglutaminase antibody and total IgA from 232 children with nonsyndromic intellectual disability and in a healthy control group of 239 children. Study participants who were positive for tissue transglutaminase antibody underwent a duodenal biopsy. A total of 3 patients in the nonsyndromic intellectual disability group (5.45%) and 1 in the control group (0.41%) had positive serum tissue transglutaminase antibody (P > .05). Duodenal biopsy confirmed celiac disease in only 1 patient who had nonsyndromic intellectual disability. In this present study, children with nonsyndromic intellectual disability did not exhibit a higher celiac disease prevalence rate compared with healthy controls. Therefore, we suggest that screening test for celiac disease should not be necessary as a part of the management of mild and moderate nonsyndromic intellectual disability. However, cases of severe nonsyndromic intellectual disability could be examined for celiac disease. © The Author(s) 2015.

  1. Retinitis pigmentosa and deafness.

    OpenAIRE

    Mills, R P; Calver, D M

    1987-01-01

    Seventeen patients with retinitis pigmentosa (RP) have been investigated audiologically. Of 9 found to have a significant hearing loss, 6 were examples of Usher's syndrome; these patients had a cochlear pattern of hearing loss. The other 3 were examples of Senior's syndrome, Kearne-Sayre syndrome and Lawrence-Moon-Biedle syndrome respectively. Two of these patients had absent stapedius reflexes. It is suggested that patients with different RP-deafness syndromes may have lesions in different p...

  2. Prevalence of consanguineous marriage among parents of deaf and normal children in Ardabil, North Western Iran

    Directory of Open Access Journals (Sweden)

    Shahrooz Nemati

    2012-06-01

    Full Text Available Background and Aim: Having healthy non-handicapped children plays a major role in mental health of the family and decreases family and society's costs. While consanguineous marriage could lead to expression of recessive genes and a variety of handicaps including deafness, the aim of present study was to scrutinize the prevalence of consanguineous marriage among parents of deaf and normal children as well as its relationship with deafness.Methods: In this study, 467 couples parenting normal children were selected by cluster sampling from elementary, guidance and high schools of Ardabil city and 423 couples parenting disabled children were selected non-randomly among which 130 had deaf children. Descriptive statistics was used to determine the prevalence of consanguineous marriage and chi-square test to compare prevalence of consanguineous marriage among parents of normal and deaf children.Results: Descriptive analyses showed that 80 out of 130 (61.54% parents who had deaf children have had consanguineous marriage. Furthermore data analysis demonstrated that prevalence of consanguineous marriage was significantly higher among parents of deaf children (p<0.001.Conclusion: Consanguineous marriage plays a major role in expression of recessive genes and could lead to development of various handicaps including deafness. Increasing couples' awareness about consequences of consanguineous marriage and conducting genetic counseling are indispensable.

  3. Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

    Science.gov (United States)

    Waryah, Ali M.; Ahmed, Zubair M.; Choo, Daniel I.; Sisk, Robert A.; Binder, Munir A.; Shahzad, Mohsin; Khan, Shaheen N.; Friedman, Thomas B.; Riazuddin, Sheikh; Riazuddin, Saima

    2011-01-01

    There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132, PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild to profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling, and molecular epidemiology of hearing loss among Pakistanis. PMID:21633365

  4. Molecular and clinical studies of X-linked deafness among Pakistani families.

    Science.gov (United States)

    Waryah, Ali M; Ahmed, Zubair M; Bhinder, Munir A; Binder, Munir A; Choo, Daniel I; Sisk, Robert A; Shahzad, Mohsin; Khan, Shaheen N; Friedman, Thomas B; Riazuddin, Sheikh; Riazuddin, Saima

    2011-07-01

    There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132 and PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild-to-profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling and molecular epidemiology of hearing loss among Pakistanis.

  5. Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles

    Directory of Open Access Journals (Sweden)

    Ting Chen

    2016-01-01

    Conclusions: We reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.

  6. Anger communication in deaf children

    NARCIS (Netherlands)

    Rieffe, C.J.; Meerum Terwogt, M.

    2006-01-01

    In this study, we investigated how deaf children express their anger towards peers and with what intentions. Eleven-year-old deaf children (n = 21) and a hearing control group (n = 36) were offered four vignettes describing anger-evoking conflict situations with peers. Children were asked how they

  7. Identity development in deaf adolescents

    NARCIS (Netherlands)

    Kunnen, E. Saskia

    2014-01-01

    We studied identity development during 5 years in 11 deaf adolescents who attend a school for deaf children in the highest level of regular secondary education (age between 14 and 19 years). Identity development is conceptualized by the processes of exploration and commitment formation, as

  8. Identity Development in Deaf Adolescents

    Science.gov (United States)

    Kunnen, E. Saskia

    2014-01-01

    We studied identity development during 5 years in seven deaf adolescents who attended a school for deaf children in the highest level of regular secondary education (age between 14 and 18 years), administering identity interviews every year. Identity development is conceptualized as the processes of exploration and commitment formation (Bosma,…

  9. Rhythm Deficits in "Tone Deafness"

    Science.gov (United States)

    Foxton, Jessica M.; Nandy, Rachel K.; Griffiths, Timothy D.

    2006-01-01

    It is commonly observed that "tone deaf" individuals are unable to hear the beat of a tune, yet deficits on simple timing tests have not been found. In this study, we investigated rhythm processing in nine individuals with congenital amusia ("tone deafness") and nine controls. Participants were presented with pairs of 5-note sequences, and were…

  10. Hypothesis of K+-Recycling Defect Is Not a Primary Deafness Mechanism for Cx26 (GJB2 Deficiency

    Directory of Open Access Journals (Sweden)

    Hong-Bo Zhao

    2017-05-01

    Full Text Available K+-recycling defect is a long-standing hypothesis for deafness mechanism of Connexin26 (Cx26, GJB2 mutations, which cause the most common hereditary deafness and are responsible for >50% of nonsyndromic hearing loss. The hypothesis states that Cx26 deficiency may disrupt inner ear gap junctions and compromise sinking and recycling of expelled K+ ions after hair cell excitation, causing accumulation of K+-ions in the extracellular space around hair cells producing K+-toxicity, which eventually induces hair cell degeneration and hearing loss. However, this hypothesis has never been directly evidenced, even though it has been widely referred to. Recently, more and more experiments demonstrate that this hypothesis may not be a deafness mechanism underlying Cx26 deficiency. In this review article, we summarized recent advances on the K+-recycling and mechanisms underlying Cx26 deficiency induced hearing loss. The mechanisms underlying K+-sinking, which is the first step for K+-recycling in the cochlea, and Cx26 deficiency induced cochlear developmental disorders, which are responsible for Cx26 deficiency induced congenital deafness and associated with disruption of permeability of inner ear gap junctional channels to miRNAs, are also summarized and discussed.

  11. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

    DEFF Research Database (Denmark)

    Nyegaard, Mette; Rendtorff, Nanna D; Nielsen, Morten S

    2015-01-01

    Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP......-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192......-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXX phi). In whole blood from an affected individual, we found by RT-PCR both the wild...

  12. The Deaf Child as a Linguistic Minority.

    Science.gov (United States)

    Charrow, Veda R.; Wilbur, Ronnie B.

    The author offers support for viewing the deaf child as a member of a linguistic minority and considers how this situation affects education of the deaf. Deaf persons are discussed in terms of their intellectual abilities, educational achievement, English competence, and the sociolinguistic factors which point to the existence of a deaf community.…

  13. Characteristics of children and adolescents in the Dutch national in- and outpatient mental health service for deaf and hard of hearing youth over a period of 15 years.

    Science.gov (United States)

    van Gent, Tiejo; Goedhart, Arnold W; Treffers, Philip D A

    2012-01-01

    In this study socio-demographic, deafness-related and diagnostic characteristics of hearing impaired children and adolescents referred to a national mental health service for deaf and hard of hearing children and adolescents were examined. Socio-demographic and diagnostic characteristics were compared to corresponding characteristics of hearing referred peers with identified mental health problems. The difference in characteristics between them and hearing referred peers with identified mental health problems was analyzed. A total of 389 deaf and hard of hearing and 3361 hearing children and adolescents was extracted from a database, all first referrals of patients of a center for child and adolescent psychiatry over a 15-year period. With deaf and hard of hearing patients we found higher rates of environmental stress, as indicated by conditions such as more one parent families (38.6% versus 25.8%), and more parents with a low educational level (44.2% versus 31.1%). Moreover, deaf and hard of hearing patients were older at their first referral (10.8 versus 9.4 years) and had higher rates of pervasive developmental disorders (23.7% versus 12.3%) and mental retardation (20.3% versus 3.9%). Within the target group of deaf and hard of hearing patients, most patients were deaf (68.9%; 22.3% was severely hard of hearing), relatively few (13.7%) had a non-syndromal hereditary hearing impairment, and more (21.3%) had a disabling physical health condition, especially those with a pervasive developmental disorder (42.6%). These findings illustrate both the complexity of the problems of deaf and hard of hearing children and adolescents referred to specialist mental health services, and the need for preventive interventions aimed at early recognition. Copyright © 2012 Elsevier Ltd. All rights reserved.

  14. Studies on deaf mobile application

    Science.gov (United States)

    Nathan, Shelena Soosay; Hussain, Azham; Hashim, Nor Laily

    2016-08-01

    The deaf normally considered to be disabled that do not need any mobile technology due to the inabilities of hearing and talking. However, many deaf are using mobile phone in their daily life for various purposes such as communication and learning. Many studies have attempted to identify the need of deaf people in mobile application and level of usage of the applications. This study aims in studying the recent research conducted on deaf mobile application to understand the level of importance of mobile technology for this disabled community. This paper enable identification of studies conducted are limited and the need of more research done of this disabled people to ensure their privilege of using mobile technology and its application, which leads to the identification of deaf user requirement for mobile application as future study.

  15. Nonsyndromic cleft lip and palate: Evidence of linkage to a microsatellite marker on 6p23

    Energy Technology Data Exchange (ETDEWEB)

    Carinci, F.; Pezzetti, F.; Scapoli, L.; Padula, E.; Baciliero, U.; Curioni, C.; Tognon, M.

    1995-01-01

    Nonsydromic cleft lip with or without secondary clefting of the palate (CL+/{minus}P) is one of the most common birth defects. A previous linkage study concerning CL+/{minus}P and cleft palate (CP) families indicated chromosome 6p, near F13A locus, as a possible region for the presence of a clefting gene. More recently, another linkage study performed on a sample of 12 families with nonsyndromic CL+/{minus}P seemed to exclude this association. To test the hypothesis on the possible presence of a major gene on chromosome 6p, we carried out a study on a large sample (21) of CL+/{minus}P families from northeastern Italy. In conclusion, our investigation can be summarized as follows: (i) CL+/{minus}P disease appears to be heterogeneous; (ii) {approximately}66% of the pedigrees showed an autosomal dominant inheritance with incomplete penetrance; and (iii) CL+/{minus}P locus maps on 6p23 very close to or at the microsatellite marker D6S89. To verify whether the D6S89 is the closest marker to the CL+/{minus}P locus, additional examinations with new markers are underway. 19 refs., 1 fig., 1 tab.

  16. Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

    Science.gov (United States)

    Stone, Edwin M.; Cideciyan, Artur V.; Aleman, Tomas S.; Scheetz, Todd E.; Sumaroka, Alexander; Ehlinger, Mary A.; Schwartz, Sharon B.; Fishman, Gerald A.; Traboulsi, Elias I.; Lam, Byron L.; Fulton, Anne B.; Mullins, Robert F.; Sheffield, Val C.; Jacobson, Samuel G.

    2014-01-01

    Objective To investigate whether mutations in NPHP5 can cause Leber congenital amaurosis (LCA) without early-onset renal disease. Methods DNA samples from 276 individuals with non-syndromic LCA were screened for variations in the NPHP5 gene. Each had been previously screened for mutations in 8 known LCA genes without identifying a disease-causing genotype. Results Nine of the 276 LCA probands (3.2%) harbored 2 plausible disease-causing mutations (7 different alleles) in NPHP5. Four of these have been previously reported in patients with Senior-Loken syndrome (F141del, R461X, H506del, and R489X) and 3 are novel (A111del, E346X, and R455X). All 9 patients had severe visual loss from early childhood but none had overt renal disease in the first decade of life. Two patients were diagnosed with nephronophthisis in the second decade. Retinal imaging studies showed retained photoreceptor nuclei and retinal pigment epithelium integrity mainly in the cone-rich central retina, a phenotype with strong similarities to that of NPHP6 disease. Conclusions Mutations in NPHP5 can cause LCA without early-onset renal disease. Abnormalities observed in the photoreceptor outer segments (a cilial structure) may explain the severe visual loss in NPHP5-associated LCA. Clinical Relevance The persistence of central photoreceptor nuclei despite severe visual loss in NPHP5 disease is encouraging for future therapeutic interventions. PMID:21220633

  17. Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate.

    Directory of Open Access Journals (Sweden)

    Gerson Shigeru Kobayashi

    Full Text Available Non-syndromic cleft lip/palate (NSCL/P is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. Previous findings have appointed an aetiological overlap between NSCL/P and cancer, and alterations in similar biological pathways may underpin both conditions. Here, using a combination of transcriptomic profiling and functional approaches, we report that NSCL/P dental pulp stem cells exhibit dysregulation of a co-expressed gene network mainly associated with DNA double-strand break repair and cell cycle control (p = 2.88×10(-2-5.02×10(-9. This network included important genes for these cellular processes, such as BRCA1, RAD51, and MSH2, which are predicted to be regulated by transcription factor E2F1. Functional assays support these findings, revealing that NSCL/P cells accumulate DNA double-strand breaks upon exposure to H2O2. Furthermore, we show that E2f1, Brca1 and Rad51 are co-expressed in the developing embryonic orofacial primordia, and may act as a molecular hub playing a role in lip and palate morphogenesis. In conclusion, we show for the first time that cellular defences against DNA damage may take part in determining the susceptibility to NSCL/P. These results are in accordance with the hypothesis of aetiological overlap between this malformation and cancer, and suggest a new pathogenic mechanism for the disease.

  18. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

    OpenAIRE

    Cross, J. H.; Arora, R.; Heckemann, R. A.; Gunny, R.; Chong, K.; Carr, L.; Baldeweg, T.; Differ, A. M.; Lench, N.; Varadkar, S.; Sirimanna, T.; Wassmer, E.; Hulton, S. A.; Ognjanovic, M.; Ramesh, V.

    2013-01-01

    Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene. Here, we provide a detailed characterization of the clinical features of the syndrome to aid patient management with respect to diagnosis, prognostic counselling, and identification of best treatment modalities.

  19. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

    Science.gov (United States)

    Vulto-van Silfhout, Anneke T; Rajamanickam, Shivakumar; Jensik, Philip J; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J; Raghavan, Ramya; Reardon, Sara N; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L; Huggenvik, Jodi I; McKnight, G Stanley; Rose, Gregory M; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W M; Lugtenberg, Dorien; de Vries, Petra F; Veltman, Joris A; van Bokhoven, Hans; Brunner, Han G; Rauch, Anita; de Brouwer, Arjan P M; Carvill, Gemma L; Hoischen, Alexander; Mefford, Heather C; Eichler, Evan E; Vissers, Lisenka E L M; Menten, Björn; Collard, Michael W; de Vries, Bert B A

    2014-05-01

    Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech development, and three showed severe behavioral problems. DEAF1 is highly expressed in the CNS, especially during early embryonic development. All four mutations were missense mutations affecting the SAND domain of DEAF1. Altered DEAF1 harboring any of the four amino acid changes showed impaired transcriptional regulation of the DEAF1 promoter. Moreover, behavioral studies in mice with a conditional knockout of Deaf1 in the brain showed memory deficits and increased anxiety-like behavior. Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  20. Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting

    DEFF Research Database (Denmark)

    Roosenboom, Jasmien; Indencleef, Karlijne; Hens, Greet

    2017-01-01

    Nonsyndromic orofacial clefts (OFCs) are complex traits characterized by multifactorial inheritance and wide phenotypic variability. Numerous studies have shown subtle differences in the faces of unaffected relatives from cleft families compared to controls, the implication being that such outwar...

  1. The Identity of Czech Deaf Roma

    OpenAIRE

    Kalousová, Josefina

    2012-01-01

    With the definition of Deaf people as a cultural and linguistic minority the research of Deaf identity became possible. Following this, questions of identity of minority deaf persons emerged. Do these persons affiliate to the Deaf community or to their ethnic minority? This bachelor thesis focuses on the topic of Czech deaf Roma identity. The underlying assumption of the paper is that identity is a continuing process dependent on the interaction of an individual and society and that it consti...

  2. Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a mutation

    Directory of Open Access Journals (Sweden)

    Yong Suk Shim

    2015-03-01

    Full Text Available Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.

  3. Fostering Positive Deaf Identity Development in a K-2 Deaf Classroom /

    OpenAIRE

    Hipskind, Courtney

    2014-01-01

    All Deaf children deserve to have opportunities to openly explore, examine, and affirm their own Deaf identities at school, yet there is a shortage of curricula and resources dedicated to this basic need. The aim of this thesis is to provide Deaf children with such opportunities. The curriculum within- Fostering Deaf Identity Development in a K-2 Deaf Classroom- consists of two units that address positive Deaf identity formation. The first unit focuses on the characterization and affirmation ...

  4. A Danish family with dominant deafness-onychodystrophy syndrome.

    Science.gov (United States)

    Vind-Kezunovic, Dina; Torring, Pernille M

    2013-01-01

    The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the disorder remains unknown. We present here three male family members in three generations with sensori-neural deafness, onychodystrophy and brachydactyly inherited via autosomal dominant transmission. The family members presented with absent fingernails on the first and fifth digits. As to the feet, there were absent nails on second to fifth toes in two family members, whereas the third family member only had absent nails on the fifth toe. The proband had late dentition and his father a history of late dentition, but otherwise the teeth appeared normal. Comparative genomic hybridization array analysis (Agilent 400k oligoarray) of the proband did not detect any copy number variation. This Danish family fits within the spectrum of dominant deafness and onychodystrophy syndrome and further characterises this rare disorder.

  5. Prevalence, heritability and genetic correlations of congenital sensorineural deafness and pigmentation phenotypes in the Border Collie.

    Science.gov (United States)

    De Risio, Luisa; Lewis, Tom; Freeman, Julia; de Stefani, Alberta; Matiasek, Lara; Blott, Sarah

    2011-06-01

    The objectives of this study were to estimate prevalence, heritability and genetic correlations of congenital sensorineural deafness (CSD) and pigmentation phenotypes in the Border Collie. Entire litters of Border Collies that presented to the Animal Health Trust (1994-2008) for assessment of hearing status by brain stem auditory evoked response (BAER) at 4-10 weeks of age were included. Heritability and genetic correlations were estimated using residual maximum likelihood (REML). Of 4143 puppies that met the inclusion criteria, 97.6% had normal hearing status, 2.0% were unilaterally deaf and 0.4% were bilaterally deaf. Heritability of deafness as a trichotomous trait (normal/unilaterally deaf/bilaterally deaf) was estimated at 0.42 using multivariate analysis. Genetic correlations of deafness with iris colour and merle coat colour were 0.58 and 0.26, respectively. These results indicate that there is a significant genetic effect on CSD in Border Collies and that some of the genes determining deafness also influence pigmentation phenotypes. Copyright © 2010 Elsevier Ltd. All rights reserved.

  6. Deaf not Daft: The Deaf in Mental Subnormality Hospitals.

    Science.gov (United States)

    Williams, Chris

    1982-01-01

    Case studies of deaf or hearing impaired persons in institutions for the mentally retarded illustrate the ways in which the "invisible handicap" can mask cognitive ability, causing unnecessary institutionalization. (CL)

  7. [Progress in studies on the genetic risk factors for nonsyndromic cleft lip or palate in China].

    Science.gov (United States)

    Huang, Y Q

    2017-04-09

    Cleft lip and palate is the most common congenital defects of oral and maxillofacial region in human beings. The etiology of this malformation is complex, with both genetic and environmental causal factors are involved. To provide a better understanding in the genetic etiology of cleft lip or palate, the author summarized recent years studies based on Chinese population. Those researches included validation of some candidate genes for cleft lip or palate, using genome wide association analysis which included six independent cohorts from China to elucidate the genetic architecture of non-syndromic cleft lip with or without cleft palate in Chinese population and finally found a new susceptibility locus. This locus was on the 16p13.3 (rs8049367) between CREBBP and ADCY9. It has been mentioned common methods of genetic analysis involved in the researches on cleft lip or palate in this paper. Furthermore, we try to discuss new methods to illustrate the etiology of cleft lip and palate that could provide more inspiration on future researches.

  8. Disease: H01209 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01209 Deafness, X-linked Hereditary deafness is divided into syndromic forms (in which hearing... of the cases of non-syndromic hearing loss. X-linked deafness is clinically and genetically heterogeneous d...isorder. PRPS1 and POU3F4 have been identified as the genes to be implicated in X-linked non-syndromic hea...ring loss. Nervous system disease; Nervous system disease PRPS1 [HSA:5631] [KO:K009

  9. Overview on Deaf-Blindness

    Science.gov (United States)

    ... of Deaf-Blind Education Transition to Adulthood > Transition Self Determination Person Centered Planning Postsecondary Education Independent Living Employment Customized Employment Sex Education Adult Services Technology Personnel > Intervener Services Support ...

  10. Psychodramatic Treatment for Deaf People.

    Science.gov (United States)

    Swink, David F.

    1985-01-01

    The article describes how psychodrama is used in group psychotherapy and in social skills groups with deaf persons. In addition, videotape replay is described as an adjunct to psychodramatic treatment. (Author/CL)

  11. Epistemologies, deafness, learning, and teaching.

    Science.gov (United States)

    Moores, Donald F

    2010-01-01

    The study of Deaf epistemologies is in a nascent stage relative to, e.g., the study of feminist or African American epistemologies. It has only recently begun attracting the widespread attention it deserves. The present article addresses Deaf epistemologies as they relate to the sometimes conflicting trends in American society and education. In a relatively short period, the education of deaf students has gone from an independent enterprise under the aegis of special education to heavy influence by No Child Left Behind legislation that applies to virtually all American students. American education at one and the same time embraces and celebrates diversity, imposes uniform, rigid learning standards for all children, and mandates that all children be tested in the same way. An oxymoron exists of individualized educational planning and one-size-fits-all curricula and assessment of academic achievement. Implications for teaching and learning of deaf students are explored.

  12. Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population

    Directory of Open Access Journals (Sweden)

    Suazo José

    2011-12-01

    Full Text Available Abstract Background Bone morphogenetic protein 4 gene (BMP4 plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP and BMP4 polymorphisms by detecting transmission deviations for haplotypes that include a region containing a BMP4 promoter in case-parent trios. The aim of the present study was to search for possible causal mutations within BMP4 promoters (BMP4.1 and BMP4.2. Methods We analyzed the sequence of BMP4.1 and BMP4.2 in 167 Chilean NSCLP cases and 336 controls. Results We detected three novel variants in BMP4.1 (c.-5514G > A, c.-5365C > T and c.-5049C > T which could be considered as cleft risk factors due to their absence in controls. Additionally, rs2855530 G allele (BMP4.2 carriers showed an increased risk for NSCLP restricted to males (OR = 1.52; 95% C.I. = 1.07-2.15; p = 0.019. For this same SNP the dominant genotype model showed a higher frequency of G/G+G/C and a lower frequency of C/C in cases than controls in the total sample (p = 0.03 and in the male sample (p = 0.003. Bioinformatic prediction analysis showed that all the risk variants detected in this study could create new transcription factor binding motifs. Conclusions The sex-dependent association between rs2855530 and NSCLP could indirectly be related to the differential gene expression observed between sexes in animal models. We concluded that risk variants detected herein could potentially alter BMP4 promoter activity in NSCLP. Further functional and developmental studies are necessary to support this hypothesis.

  13. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation

    International Nuclear Information System (INIS)

    Wang Qiuju; Li Qingzhong; Han Dongyi; Zhao Yali; Zhao Lidong; Qian Yaping; Yuan Hu; Li Ronghua; Zhai Suoqiang; Young Wieyen; Guan Minxin

    2006-01-01

    We report here the clinical, genetic, and molecular characterization of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Five of nine matrilineal relatives had aminoglycoside-induced hearing loss. These matrilineal relatives exhibited variable severity and audiometric configuration of hearing impairment, despite sharing some common features: being bilateral and having sensorineural hearing impairment. Sequence analysis of mitochondrial DNA (mtDNA) in the pedigree identified 16 variants and the homoplasmic 12S rRNA C1494T mutation, which was associated with hearing loss in the other large Chinese family. In fact, the occurrence of the C1494T mutation in these genetically unrelated pedigrees affected by hearing impairment strongly indicated that this mutation is involved in the pathogenesis of aminoglycoside-induced and nonsyndromic hearing loss. However, incomplete penetrance of hearing loss indicated that the C1494T mutation itself is not sufficient to produce a clinical phenotype but requires the involvement of modifier factors for the phenotypic expression. Those mtDNA variants, showing no evolutional conservation, may not have a potential modifying role in the pathogenesis of the C1494T mutation. However, nuclear background seems to contribute to the phenotypic variability of matrilineal relatives in this family. Furthermore, aminoglycosides modulate the expressivity and penetrance of deafness associated with the C1494T mutation in this family

  14. Examining a Sample of Black Deaf Individuals on the Deaf Acculturation Scale

    Science.gov (United States)

    Nelson Schmitt, Shawn S.; Leigh, Irene W.

    2015-01-01

    The current study sought to identify and analyze how Black deaf and hard-of-hearing people conceptualize their deaf and hard-of-hearing identities. That is, what cultural and linguistic factors are involved and how do they interact? An existing measure of Deaf cultural identity, the Deaf Acculturation Scale (DAS), was used to evaluate these…

  15. Joining the Diaspora of Deaf Memoirists: A Personal Account of Writing Deafness

    Science.gov (United States)

    McDonald, Donna

    2014-01-01

    In this essay, the author describes how, and why, she tackled a lifetime of questions about her deafness and experiences of being deaf by writing a memoir called The Art of Being Deaf. While researching her memoir, the author discovered that the questions about her deafness that she most needed to answer were her own. Having first read many…

  16. [Genetic counseling and instruction of marriage for deaf young people: study of 115 cases].

    Science.gov (United States)

    Han, Bing; Dai, Pu; Wang, Guo-Jian; Yuan, Yong-Yi; Li, Qi; Zhang, Xin; Kang, Dong-Yang; Han, Dong-Yi

    2009-03-17

    To invesigate the molecular pathogenesis of deafness among the youth by means of genetic testing so as to provide pre-marriage genetic counseling and instruction for the deaf youth. 217 deaf young people, 126 males and 91 females, aged 18.9 (16 - 26), from Yunnan and Guizhou provinces, underwent history taking, auditory testing, and collection of peripheral blood samples. Genomic DNA and mitochondrial DNA were extracted to undergo sequence analysis of the entire gene GJB2, common point mutation of SLC26A4 gene, and mutation of mtDNA A1555G. Genetic prediction and marriage instruction were provided to each subject based on these results. Twenty-three of the 117 persons (10.5%), 13 males and 10 females, were mtDNA A1555G mutation carriers and they were instructed that they, their maternal relatives, and the offspring of the female carriers, should they be born, should strictly avoid the administration of amino glycoside antibiotics. Twenty eight of the 115 persons (12.9%), were confirmed to carry homozygous or compound GJB2 mutations, 5 individuals (2.3%) carried heterozygous GJB2 mutation, 19 (8.8%) carried homozygous or compound SLC26A4 mutations, and one (0.5%) carried heterozygous SLC26A4 mutation. The suggestion for them was to avoid getting married with deaf partners caused by the same deaf gene or with individuals carrying mutations in the same deaf gene. Meanwhile, suggestions such as avoiding aggressive exercises and head injury were provided to the deaf young people with SLC26A4 mutations. Genetic testing can provide more accurate and useful genetic counseling and instruction to deaf young people for their partner selection and eugenics.

  17. Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.

    Science.gov (United States)

    Montini, E; Andolfi, G; Caruso, A; Buchner, G; Walpole, S M; Mariani, M; Consalez, G; Trump, D; Ballabio, A; Franco, B

    1998-08-01

    Eukaryotic protein kinases are part of a large and expanding family of proteins. Through our transcriptional mapping effort in the Xp22 region, we have isolated and sequenced the full-length transcript of STK9, a novel cDNA highly homologous to serine-threonine kinases. A number of human genetic disorders have been mapped to the region where STK9 has been localized including Nance-Horan (NH) syndrome, oral-facial-digital syndrome type 1 (OFD1), and a novel locus for nonsyndromic sensorineural deafness (DFN6). To evaluate the possible involvement of STK9 in any of the above-mentioned disorders, a 2416-bp full-length cDNA was assembled. The entire genomic structure of the gene, which is composed of 20 coding exons, was determined. Northern analysis revealed a transcript larger than 9.5 kb in several tissues including brain, lung, and kidney. The mouse homologue (Stk9) was identified and mapped in the mouse in the region syntenic to human Xp. This location is compatible with the location of the Xcat mutant, which shows congenital cataracts very similar to those observed in NH patients. Sequence homologies, expression pattern, and mapping information in both human and mouse make STK9 a candidate gene for the above-mentioned disorders. Copyright 1998 Academic Press.

  18. Joining the diaspora of deaf memoirists: a personal account of writing deafness.

    Science.gov (United States)

    McDONALD, Donna

    2014-01-01

    In this essay, the author describes how, and why, she tackled a lifetime of questions about her deafness and experiences of being deaf by writing a memoir called The Art of Being Deaf. While researching her memoir, the author discovered that the questions about her deafness that she most needed to answer were her own. Having first read many memoirs by other deaf writers and novels with deaf characters, the author set about composing her own narrative of deafness in a fresh way. She not only came to an improved understanding of her deaf self, but grew into a more authentic understanding of her whole self, reconciling her memories of the deaf girl she once was with the adult deaf woman she is now. The author illustrates how the act of writing a memoir can be an important tool in resolving questions of identity.

  19. Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

    Directory of Open Access Journals (Sweden)

    Manuel Schiff

    Full Text Available BACKGROUND: In the investigation of autism spectrum disorders (ASD, a genetic cause is found in approximately 10-20%. Among these cases, the prevalence of the rare inherited metabolic disorders (IMD is unknown and poorly evaluated. An IMD responsible for ASD is usually identified by the associated clinical phenotype such as dysmorphic features, ataxia, microcephaly, epilepsy, and severe intellectual disability (ID. In rare cases, however, ASD may be considered as nonsyndromic at the onset of a related IMD. OBJECTIVES: To evaluate the utility of routine metabolic investigations in nonsyndromic ASD. PATIENTS AND METHODS: We retrospectively analyzed the results of a metabolic workup (urinary mucopolysaccharides, urinary purines and pyrimidines, urinary creatine and guanidinoacetate, urinary organic acids, plasma and urinary amino acids routinely performed in 274 nonsyndromic ASD children. RESULTS: The metabolic parameters were in the normal range for all but 2 patients: one with unspecific creatine urinary excretion and the other with persistent 3-methylglutaconic aciduria. CONCLUSIONS: These data provide the largest ever reported cohort of ASD patients for whom a systematic metabolic workup has been performed; they suggest that such a routine metabolic screening does not contribute to the causative diagnosis of nonsyndromic ASD. They also emphasize that the prevalence of screened IMD in nonsyndromic ASD is probably not higher than in the general population (<0.5%. A careful clinical evaluation is probably more reasonable and of better medical practice than a costly systematic workup.

  20. Nkx2-5 Mutations in Patients With Nonsyndromic Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Fariborz Soheili

    2016-01-01

    Full Text Available Background Congenital heart diseases (CHD are the most common of all birth defects, affecting nearly 0.9% of all live births. Nkx2-5 mutations were reported to cause CHD but data in Kurdish populations of Iran are limited. Objectives In this experimental study, we performed high resolution melt (HRM mutation scanning of Nkx2-5 exons of non-syndrome patients. Patients and Methods Thirty nine patients with atrial septal defect and 57 patients with ventricular septal defect, 4 patients possessing both defects as case groups and 50 healthy controls. Then we grouped samples according to HRM graph and sequenced several samples from each group. Results HRM analysis showed 2 deviated curves for exon 1 and one group for exon 2A and exon 2B. Then, 2 samples of exon 1 that showed different HRM curves, 3 samples of another group from this exon and 5 samples of exon 2A, 2B and healthy controls were randomly sequenced. The results of sequencing confirmed the HRM analysis, and one polymorphism (A65G was identified in 2 atrial septal defects with deviated curves. Conclusions The environmental and effective factors on the heart development within embryonic evolution as well as the possibility of the existence of the mutation in coding genes of the other cardiac transcription factors such as GATA4 and TBX5 can be the reasons for the lack of the pathogenic mutation in this study. It is suggested in further related studies to investigate normal and abnormal cardiac tissue samples of these studied patients and coding genes of the other cardiac transcription factors.

  1. Apartheid in Deaf Education: Examining Workforce Diversity

    Science.gov (United States)

    Simms, Laurene; Rusher, Melissa; Andrews, Jean F.; Coryell, Judy

    2008-01-01

    A survey of 3,227 professionals in 313 deaf education programs found that 22.0% of teachers and 14.5% of administrators were deaf--a less than 10% increase in deaf professionals since 1993. Additionally, 21.7% of teachers and 6.1% of administrators were professionals of color. Of these minority teachers, only 2.5% were deaf persons of color. Only…

  2. Deaf on the Lifeline of Mumbai

    Science.gov (United States)

    Kusters, Annelies

    2009-01-01

    This article is a result of my MSc Deaf Studies dissertation that is situated on an intersection between Deaf geography, anthropology and Deafhood theory. During five weeks of participatory observation and interviews in Mumbai, my attention was drawn to the city's lifeline: the suburban train system. It appeared that Deaf people tend to travel in…

  3. A Psycholinguistic Analysis of "Deaf English."

    Science.gov (United States)

    Charrow, Veda R.

    The purpose of this study was to identify and provide normative data for weighting of those nonstandard linguistic features that make up deaf English. Subjects were prelingually or congenitally deaf high school students from the California School for the Deaf and a control group of normal-hearing fourth graders from a California public school.…

  4. Deafness and the Riddle of Identity

    Science.gov (United States)

    Davis, Lennard J.

    2007-01-01

    In the past, much discrimination against deaf people was based on the assumption that they were in fact people without language--that is, dumb. "Dumb" carried the sense of being not only mute but also stupid, as in a "dumb" animal. The status of deaf people has changed in important ways, as deaf activists and scholars have reshaped the idea of…

  5. Understanding Deaf Readers: An Interpretative Phenomenological Analysis

    Science.gov (United States)

    Kelstone, Aaron Weir

    2013-01-01

    The development of reading skills, beyond a functional level, is difficult for most deaf readers. Standardized testing demonstrates a median 4th grade reading level that remains consistent even after national norming of the Stanford Achievement test on the population of deaf school children. Deaf education continues to generate various educational…

  6. Development of Deaf Identity: An Ethnographic Study

    Science.gov (United States)

    McIlroy, Guy; Storbeck, Claudine

    2011-01-01

    This ethnographic study explores the identity development of 9 deaf participants through the narratives of their educational experiences in either mainstream or special schools for the Deaf. This exploration goes beyond a binary conceptualization of deaf identity that allows for only the medical and social models and proposes a bicultural…

  7. Ethics, Deafness, and New Medical Technologies

    Science.gov (United States)

    Hintermair, Manfred; Albertini, John A.

    2005-01-01

    In the last 50 years, several new technologies have become enormously important within the Deaf community and have helped significantly to improve deaf people's lives in a hearing world. Current public attention and admiration, however, seems unduly focused on medical technologies that promise to solve "the problem" of being deaf. One reason for…

  8. Deaf child sexual education and family leadership

    Directory of Open Access Journals (Sweden)

    García, Mirna Maura

    2010-07-01

    Full Text Available This paper is an approach to the study of the role of the family in sexual education of deaf children and adolescents. The difference between hearing and deaf families is taken into consideration. Likewise, hints that favor communication between deaf children and hearing parents are given.

  9. The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans

    Directory of Open Access Journals (Sweden)

    Ah Reum Kim

    2017-10-01

    Full Text Available We performed targeted re-sequencing to identify the genetic etiology of early-onset postlingual deafness and encountered a frequent TMPRSS3 allele harboring two variants in a cis configuration. We aimed to evaluate the pathogenicity of the allele. Among 88 cochlear implantees with autosomal recessive non-syndromic hearing loss, subjects with GJB2 and SLC26A4 mutations were excluded. Thirty-one probands manifesting early-onset postlingual deafness were sorted. Through targeted re-sequencing, we detected two families with a TMPRSS3 mutant allele containing p.V116M and p.V291L in a cis configuration, p.[p.V116M; p.V291L]. A minor allele frequency was calculated and proteolytic activity was measured. A p.[p.V116M; p.V291L] allele demonstrated a significantly higher frequency compared to normal controls and merited attention due to its high frequency (4.84%, 3/62. The first family showed a novel deleterious splice site variant—c.783-1G>A—in a trans allele, while the other showed homozygosity. The progression to deafness was noted within the first decade, suggesting DFNB10. The proteolytic activity was significantly reduced, confirming the severe pathogenicity. This frequent mutant allele significantly contributes to early-onset postlingual deafness in Koreans. For clinical implication and proper auditory rehabilitation, it is important to pay attention to this allele with a severe pathogenic potential.

  10. A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child

    Directory of Open Access Journals (Sweden)

    Senthil Balasubramani

    2016-01-01

    Full Text Available Lip pits are a rare congenital anomaly that presents on the upper or lower lip or the commissure of the lips. Lip pits are an autosomal dominant trait occurring almost always in association with cleft lip or palate. They most commonly occur in association with developmental disturbances such as Van der Woude's syndrome, popliteal pterygium syndrome, oro-facial-digital syndrome, Marres-Cremers syndrome, and Hirschsprung disease. Its occurrence in nonsyndromic individuals is extremely rare with only a handful of cases reported. The identification of lip pits with other associated anomalies is crucial for genetic counseling; we report a case of nonsyndromic presentation of bilateral lip pits.

  11. Deaf Education in a Planetarium

    Science.gov (United States)

    Liu, Muxue; Hintz, E. G.; Jones, M.; Lawler, J.; Fisler, A.; Mumford, H.

    2013-01-01

    Over the years we have struggled with the difficulty of giving a planetarium show to a deaf audience. This is especially true for a younger audience with limited reading abilities. You must illuminate the ASL signer which causes light splash onto the dome. You must slow the presentation down to allow for time to interpret and then point. A slower presentation can have an adverse impact on the learning of the hearing students if the presentation is made to a mixed audience. To address these issues, we are currently working on methods to improve deaf education in a planetarium environment. We will present an overview of the current project along with efforts to establish baselines comprehension levels for both deaf and hearing children. This work is partially funded by an NSF IIS-1124548 grant and funding from the Sorenson Foundation.

  12. Deafness and motor abilities level

    Directory of Open Access Journals (Sweden)

    A Zwierzchowska

    2008-09-01

    Full Text Available The audition injury hinders some motor motions and the organised coordination at the higher level and may be a cause of disturbances and disorder in some motor abilities adoption. It was assumed that deafness including its aetiology and injury mechanism may significantly influence the motor development of human being. The study aimed in checking if the deafness, as a result of various unfavourable factors, determines the motor development of children and youngsters. Consequently the dependency between qualitative features i.e.: signed motor level and aetiology, audition injury mechanism and the deafness degree was examined. The mechanism and aetiology of hearing correlated with the motor abilities displayed statistically significant dependencies in few motor trials only. Revealed correlations regarded mostly the coordination trials excluding the flexibility one. Statistically significant dependencies between the audition diminution and the motor abilities level were not found.

  13. Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting.

    Science.gov (United States)

    Howe, B J; Cooper, M E; Vieira, A R; Weinberg, S M; Resick, J M; Nidey, N L; Wehby, G L; Marazita, M L; Moreno Uribe, L M

    2015-07-01

    Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ(2) statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10(-8)) and permanent dentitions (51% vs. 8%, P = 4 × 10(-62)) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the

  14. "Quality of Life in Adults with Non-Syndromic Craniosynostosis".

    Science.gov (United States)

    Mazzaferro, Daniel M; Naran, Sanjay; Wes, Ari M; Magee, Leanne; Taylor, Jesse A; Bartlett, Scott P

    2018-03-19

    While studies have analyzed quality of life (QOL) in children with non-syndromic craniosynostosis (NSC), to date nobody has investigated long-term QOL in adults with NSC. The purpose of this study is to compare QOL in adult NSC patients with a cohort of unaffected controls. We queried our institution's prospectively maintained craniofacial registry for NSC patients 18 years and older, and administered the validated World Health Organization Quality of Life (WHOQOL-BREF) questionnaire. Responses were compared, using a two-sample t-test, to an age-matched, United States, normative database provided by the World Health Organization (WHO). 151 adults met inclusion criteria: 52 were successfully contacted and 32 completed the WHOQOL-BREF. Average age of respondents was 23.0±6.1 years old (range, 18.1 to 42.1). 12 subjects had metopic synostosis, 15 had unicoronal, and 5 had sagittal. NSC patients had a superior quality of life compared to comparative norms in all domains: physical health (17.8±2.7 vs. 15.5±3.2, p0.05), while all individual subtypes maintained superior or equivalent QOL relative to controls. Demographic variables, Whitaker score, and number of surgical interventions did not correlate with differences in QOL. Adult patients previously treated for NSC perceive their quality of life to be high, superior to that of a normative United States sample. Future work will seek to analyze additional patients and better understand the reasons behind these findings.

  15. Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway.

    Science.gov (United States)

    Al Chawa, Taofik; Ludwig, Kerstin U; Fier, Heide; Pötzsch, Bernd; Reich, Rudolf H; Schmidt, Gül; Braumann, Bert; Daratsianos, Nikolaos; Böhmer, Anne C; Schuencke, Hannah; Alblas, Margrieta; Fricker, Nadine; Hoffmann, Per; Knapp, Michael; Lange, Christoph; Nöthen, Markus M; Mangold, Elisabeth

    2014-06-01

    The genes Gremlin-1 (GREM1) and Noggin (NOG) are components of the bone morphogenetic protein 4 pathway, which has been implicated in craniofacial development. Both genes map to recently identified susceptibility loci (chromosomal region 15q13, 17q22) for nonsyndromic cleft lip with or without cleft palate (nsCL/P). The aim of the present study was to determine whether rare variants in either gene are implicated in nsCL/P etiology. The complete coding regions, untranslated regions, and splice sites of GREM1 and NOG were sequenced in 96 nsCL/P patients and 96 controls of Central European ethnicity. Three burden and four nonburden tests were performed. Statistically significant results were followed up in a second case-control sample (n = 96, respectively). For rare variants observed in cases, segregation analyses were performed. In NOG, four rare sequence variants (minor allele frequency elements. © 2014 Wiley Periodicals, Inc.

  16. Molecular epidemiology of DFNB1 deafness in France

    Directory of Open Access Journals (Sweden)

    Molinari Nicolas

    2004-03-01

    Full Text Available Abstract Background Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the associated pathogenic effects are not always clearly established. The prevalence of a number of mutations is known to be population specific, and therefore population specific testing should be a prerequisite step when molecular diagnosis is offered. Moreover, population studies are needed to determine the contribution of GJB2 variants to deafness. We present our findings from the molecular diagnostic screening of the GJB2 and GJB6 genes over a three year period, together with a population-based study of GJB2 variants. Methods and results Molecular studies were performed using denaturing High Performance Liquid Chromatograghy (DHPLC and sequencing of the GJB2 gene. Over the last 3 years we have studied 159 families presenting sensorineural hearing loss, including 84 with non syndromic, stable, bilateral deafness. Thirty families were genotyped with causative mutations. In parallel, we have performed a molecular epidemiology study on more than 3000 dried blood spots and established the frequency of the GJB2 variants in our population. Finally, we have compared the prevalence of the variants in the hearing impaired population with the general population. Conclusion Although a high heterogeneity of sequence variation was observed in patients and controls, the 35delG mutation remains the most common pathogenic mutation in our population. Genetic counseling is dependent on the knowledge of the pathogenicity of the mutations and remains difficult in a number of cases. By comparing the sequence variations observed in hearing impaired patients with those sequence variants observed in general population, from the same ethnic background, we show that the M34T, V37I and R127H variants can not be responsible for profound or severe

  17. Antenatal diagnosis of congenital deafness.

    Science.gov (United States)

    Isaacson, G

    1988-01-01

    Advances in the field of antenatal diagnosis have made possible the detection of profound sensorineural hearing loss prior to birth. Fetal motion in response to sound and auditory evoked potential testing can determine the presence of fetal hearing in the third trimester of pregnancy. Imaging modalities including ultrasound, computed tomography, and magnetic resonance imaging hold promise for the diagnosis of some forms of congenital deafness in the second trimester fetus. The methods by which congenital deafness soon may be diagnosed and the implications for the otologist are discussed.

  18. Reflections on Deaf Education: Perspectives of Deaf Senior Citizens

    Science.gov (United States)

    Roberson, Len; Shaw, Sherry

    2015-01-01

    Parents with deaf children face many challenges in making educational choices, developing language and a sense of belonging. Other key aspects of life including concept development and social competency are also critical decision points faced by parents. Developing language, whether it is through spoken or signed modalities, is of utmost…

  19. Nonsyndromic cleft lip with or without cleft palate: Evidence of linkage to BCL3 in 17 multigenerational families

    Energy Technology Data Exchange (ETDEWEB)

    Stein, J.; Hecht, T. [Univ. of Texas, Houston, TX (United States); Stal, S. [Texas Children`s Hospital, Houston, TX (United States)] [and others

    1995-08-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial developmental defect. Recent segregation analyses have suggested that major genes play a role in the etiology of CL/P. Linkage to 22 candidate genes was tested in 11 multigenerational families with CL/P, and 21 of these candidates were excluded. APOC2, 19q13.1, which is linked to the proto-oncogene BCL3, gave suggestive evidence for linkage to CL/P. The study was expanded to include a total of 39 multigenerational CL/P families. Linkage was tested in all families, using anonymous marker, D19S178, and intragenic markers in BCL3 and APOC2. Linkage was tested under two models, autosomal dominant with reduced penetrance and affecteds-only model. Both models showed evidence of heterogeneity, with 43% of families linked at zero recombination to BCL3 when marker data from BCL3 and APOC2 were included. A maximum multipoint LOD score of 7.00 at BCL3 was found among the 17 families that had posterior probabilities {ge}50% in favor of linkage. The transmission disequilibrium test provided additional evidence for linkage with the 3 allele of BCL3 more often transmitted to affected children. These results suggest that BCL3, or a nearby gene, plays a role in the etiology of CL/P in some families. 39 refs., 8 figs., 4 tabs.

  20. Outcomes of cochlear implantation in deaf children of deaf parents: comparative study.

    Science.gov (United States)

    Hassanzadeh, S

    2012-10-01

    This retrospective study compared the cochlear implantation outcomes of first- and second-generation deaf children. The study group consisted of seven deaf, cochlear-implanted children with deaf parents. An equal number of deaf children with normal-hearing parents were selected by matched sampling as a reference group. Participants were matched based on onset and severity of deafness, duration of deafness, age at cochlear implantation, duration of cochlear implantation, gender, and cochlear implant model. We used the Persian Auditory Perception Test for the Hearing Impaired, the Speech Intelligibility Rating scale, and the Sentence Imitation Test, in order to measure participants' speech perception, speech production and language development, respectively. Both groups of children showed auditory and speech development. However, the second-generation deaf children (i.e. deaf children of deaf parents) exceeded the cochlear implantation performance of the deaf children with hearing parents. This study confirms that second-generation deaf children exceed deaf children of hearing parents in terms of cochlear implantation performance. Encouraging deaf children to communicate in sign language from a very early age, before cochlear implantation, appears to improve their ability to learn spoken language after cochlear implantation.

  1. Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

    Science.gov (United States)

    Aller, Elena; Jaijo, Teresa; van Wijk, Erwin; Ebermann, Inga; Kersten, Ferry; García-García, Gema; Voesenek, Krysta; Aparisi, María José; Hoefsloot, Lies; Cremers, Cor; Díaz-Llopis, Manuel; Pennings, Ronald; Bolz, Hanno J.; Kremer, Hannie; Millán, José M.

    2010-01-01

    Purpose It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss (NSHL; DFNB31) and Usher syndrome type II (USH2D). We screened DFNB31 in a large cohort of patients with different clinical subtypes of Usher syndrome (USH) to determine the prevalence of DFNB31 mutations among USH patients. Methods DFNB31 was screened in 149 USH2, 29 USH1, six atypical USH, and 11 unclassified USH patients from diverse ethnic backgrounds. Mutation detection was performed by direct sequencing of all coding exons. Results We identified 38 different variants among 195 patients. Most variants were clearly polymorphic, but at least two out of the 15 nonsynonymous variants (p.R350W and p.R882S) are predicted to impair whirlin structure and function, suggesting eventual pathogenicity. No putatively pathogenic mutation was found in the second allele of patients with these mutations. Conclusions DFNB31 is not a major cause of USH. PMID:20352026

  2. Word deafness in Wernicke's aphasia.

    OpenAIRE

    Kirshner, H S; Webb, W G; Duncan, G W

    1981-01-01

    Three patients with otherwise typical Wernicke's aphasia showed consistent superiority of visual over auditory comprehension. The precedents for and anatomical basis of a selective auditory deficit in Wernicke's aphasia are discussed, including the relationship to pure word deafness. One implication of spared visual language function may be the use of gesture in language therapy for such patients.

  3. Lentiginosis, Deafness and Cardiac Abnormalities*

    African Journals Online (AJOL)

    1973-01-06

    Jan 6, 1973 ... His height. mass. intelligence and genitalia were normal. The aSSOCiatIOn between deafness and disturbance of cardiac conduction and between pigmented skin lesions and cardiac abnormalities, has been well described. Should. ~I patient present with multiple lentigines and/or familial sensineural ...

  4. Deafness and Autistic Spectrum Disorders

    Science.gov (United States)

    Vernon, McCay; Rhodes, Anthony

    2009-01-01

    An orientation to autistic spectrum disorders (ASD), also known as autism, is provided, and the specific syndrome of autism and deafness is addressed. The two conditions have in common a major problem: communication. Case histories are provided, the development of treatment for autism is discussed, and the separate disorders that make up ASD are…

  5. The need for orthognathic surgery in nonsyndromic patients with repaired isolated cleft palate.

    Science.gov (United States)

    Antonarakis, Gregory S; Watts, Guy; Daskalogiannakis, John

    2015-01-01

    To determine the frequency of need for orthognathic surgery among nonsyndromic patients with isolated cleft palate repaired during infancy at The Hospital for Sick Children in Toronto, Canada. Retrospective cohort study. PATIENTS with nonsyndromic isolated cleft palate born between 1970 and 1997 with available records including a lateral cephalometric radiograph taken at ≥15 years of age. PATIENTS who had undergone or were being prepared for orthognathic surgery were automatically counted as requiring surgery. For the remaining patients, lateral cephalometric radiographs were traced and analyzed. Arbitrarily set cephalometric criteria were used to identify the "objective" need for orthognathic surgery. Of the 189 patients identified with nonsyndromic isolated cleft palate and for whom records were available, 25 (13.2%) were deemed to require orthognathic surgery. Of the surgical cohort, 92% required surgical correction for a Class III malocclusion. Similar percentages of males and females required orthognathic surgery. An apparently greater proportion of patients of Asian background (18.5%) than of white background (10.6%) required surgery, but this difference was not significant (P = .205). The current results suggest that approximately one in eight patients at our institution with nonsyndromic isolated cleft palate requires orthognathic surgery. There is a tendency for this to be higher in patients of Asian descent and lower in patients of white descent. Variability in extent, severity, and phenotype of the cleft, which may be attributed largely to genetics, may play an important role in dictating the need for orthognathic surgery.

  6. Lower incidence of nonsyndromic cleft lip with or without cleft palate ...

    Indian Academy of Sciences (India)

    2016-08-26

    Aug 26, 2016 ... In India, as in other parts of the world, nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a highly prevalent birth defect, its incidence in males being twice that in females. A case–control association study has been carried out with respect to homocysteine level and MTHFR C677T, A1298C and ...

  7. Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families.

    Science.gov (United States)

    Schultz, R E; Cooper, M E; Daack-Hirsch, S; Shi, M; Nepomucena, B; Graf, K A; O'Brien, E K; O'Brien, S E; Marazita, M L; Murray, J C

    2004-02-15

    Cleft lip with or without cleft palate (CL/P) is a congenital anomaly with variable birth prevalence based on geographic origins, with the highest rates commonly found in Asian populations. About 70% of cases are nonsyndromic (NS), in which the affected individual has no other abnormalities. NS CL/P is a complex disorder with genetic and environmental effects and no specific genetic loci yet confirmed. Fifteen candidate regions were examined for linkage to NS CL/P. Regions were chosen based on previous suggestive linkage and/or association in human families, or suggestive animal model data. Polymorphic markers in these regions were genotyped for analysis on 36 Filipino families comprised of 126 affected and 218 unaffected individuals. An additional 70 families with 149 affecteds were used for replication of suggestive results. Parametric (LOD score) and nonparametric (SIMIBD) linkage analyses were performed as well as transmission disequilibrium test (TDT) analysis. Five markers yielded suggestive results from the 36 families. The parametric LOD scores for the MSX1-CA and D4S1629 were >1.0 and the SIMIBD P values for D6S1029 and RFC1 are suggestive (value of 0.01 for TGFA was significant. Since the Msx1 mouse knockout has cleft palate and MSX1 mutations have been found in rare cases of syndromic CL/P, this locus is especially plausible for linkage. Previous studies have also found linkage of NS CL/P to 4q31 and 6p23. These regions contain several candidate genes, including AP2 at 6p23 and FGF2, BMPR1B, and MADH1 at 4q31. TGFA has both linkage and linkage disequilibrium data supporting it as a candidate gene for NS CL/P. While no region was definitively confirmed for linkage to NS CL/P, the data do support further investigation using larger sample sizes and candidate gene studies at 2p13.2, 4p16.2, 4q31, 6p23, and 16q22-24. Copyright 2003 Wiley-Liss, Inc.

  8. The Consequence Deafness has on the Psychological and ...

    African Journals Online (AJOL)

    The Consequence Deafness has on the Psychological and Academic Development of deaf students. The case of Alpha special school for the deaf in Addis Ababa, Hermata and Mendera Junior School at Jimma Town.

  9. Genetics Home Reference: sensorineural deafness and male infertility

    Science.gov (United States)

    ... deafness and male infertility Sensorineural deafness and male infertility Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Sensorineural deafness and male infertility is a condition characterized by hearing loss and ...

  10. Nurses experiences with deaf patient and recommendations for an effective communication with deaf in medical facility

    OpenAIRE

    Boukalová, Naděžda

    2010-01-01

    This bachelor thesis whose name is Nurses experiences with deaf patient and recommendations for an effective communication with deaf in medical facility was conceived as pilot research. This thesis consists of two parts, theoretical and experimental. Theoretical part has several chapters, which deal with anatomy of ear, physiology of hearing, deaf in Czech Republic and communication. The last part of this chapter describes certain situations, where is possible to meet the deaf at medical faci...

  11. Suicide in deaf populations: a literature review.

    Science.gov (United States)

    Turner, Oliver; Windfuhr, Kirsten; Kapur, Navneet

    2007-10-08

    Studies have found that deaf individuals have higher rates of psychiatric disorder than those who are hearing, while at the same time encountering difficulties in accessing mental health services. These factors might increase the risk of suicide. However, the burden of suicidal behaviour in deaf people is currently unknown. The aim of the present review was to provide a summary of literature on suicidal behaviour with specific reference to deaf individuals. The objectives of the review were to establish the incidence and prevalence of suicidal behaviour in deaf populations; describe risk factors for suicidal behaviour in deaf populations; describe approaches to intervention and suicide prevention that have been used in deaf populations. A number of electronic databases (e.g. Medline, PsycINFO, CINAHL, EMBASE, Dissertation Abstracts International, Web of Science, ComDisDome, ASSIA, Education Sage Full Text, Google Scholar, and the grey literature databases FADE and SIGLE) were explored using a combination of key words and medical subject headings as search terms. Reference lists of papers were also searched. The Science and Social Sciences Citation Index electronic databases were used to identify studies that had cited key papers. We also contacted experts and organisations with an interest in the field. Very few studies focussed specifically on suicide in deaf populations. Those studies that were included (n = 13) generally involved small and unrepresentative samples. There were limited data on the rate of suicidal behaviour in deaf people. One study reported evidence of hearing impairment in 0.2% of all suicide deaths. Another found that individuals with tinnitus seen in specialist clinics had an elevated rate of suicide compared to the general population. The rates of attempted suicide in deaf school and college students during the previous year ranged from 1.7% to 18%, with lifetime rates as high as 30%. Little evidence was found to suggest that risk factors for

  12. The Impact of Maternal Deafness on Cradling Laterality with Deaf and Hearing Infants

    Science.gov (United States)

    Sieratzki, Jechil S.; Woll, Bencie

    2004-01-01

    A recent article in the "Journal of Deaf Studies and Deaf Education" (Leigh, Brice, & Meadow-Orlans, 2004) explored attachment between deaf mothers and their 18-month-old children and reported relationship patterns similar to those for hearing dyads. The study reported here explores a marker of early mother-child relationships: cradling…

  13. Debating Futures in Flemish Deaf Parliament: Deaf Epistemologies, Participatory Citizenship, and Sustainable Development

    Science.gov (United States)

    De Clerck, Goedele A.M.

    2017-01-01

    More than 350 deaf/sign language community members gathered at six local deaf clubs in Flanders in 2014 to share perspectives about the future and formulate proposals for policymaking. This initiative, Flemish Deaf Parliament, serves as a platform of deliberative democracy developed through cooperation between Ghent University and the Flemish…

  14. The Church of Deaf Sociality: Deaf Churchgoing Practices and "Sign Bread and Butter" in Bangalore, India

    Science.gov (United States)

    Friedner, Michele

    2014-01-01

    This article ethnographically analyzes the practices of deaf young adults in Bangalore, India. As sign language is not used by families, schools, or other institutions, the church is a crucial educational space. Churchgoing provides deaf young adults with opportunities to orient themselves toward other deaf young adults, to develop new ideas of…

  15. A Phenomenological Study of Online Learning for Deaf Students in Postsecondary Education: A Deaf Perspective

    Science.gov (United States)

    Wooten, Patricia Michelle

    2014-01-01

    This qualitative phenomenological study investigated the effects of online learning for deaf college students as opposed to the mainstream classroom setting. This study specifically analyzed the writing and reading skills of deaf students in general and the development of English literacy of prelingually deaf students and those from non-English…

  16. Accessibility and diversity: Deaf space in action

    OpenAIRE

    Solvang, Per Koren; Haualand, Hilde

    2013-01-01

    How disabled people gather and share common experiences is empirically not a well-addressed issue in discussions about disability identity and unity. Among Deaf people, there is a long tradition for meeting in transnational contexts. Based on an intensive multi sited fieldwork at several transnational events, the article presents some examples of how deaf people negotiate social positions as Deaf that value difference. They gather as a community of communicators, marked by an identification f...

  17. Deaf Culture in Republic of Korea

    OpenAIRE

    Šlamborová, Zdeňka

    2017-01-01

    The aim is to focus on development of Deaf culture in the Republic of Korea. The thesis focuses not only on hearing impairment and the distribution of hearing loss categories from a medical point of view, but also the Deaf community and the importance of their own identities, which played a major role in the Deaf culture. It will also point to changes in Korean majority society's view on the Deaf community, and what caused Korean society's view to change. The part of this thesis is also focus...

  18. A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test.

    Science.gov (United States)

    Zhou, Shaohe; Shi, Zhangyan; Cui, Meng; Li, Junlin; Ma, Zhe; Shi, Yuanyu; Zheng, Zijian; Zhang, Fuchang; Jin, Tianbo; Geng, Tingting; Chen, Chao; Guo, Yale; Zhou, Jianping; Huang, Shaoping; Guo, Xingli; Gao, Lin; Gong, Pingyuan; Gao, Xiaocai; Zhang, Kejin

    2015-01-01

    Non-syndromic intellectual disability (NSID) is mental retardation in persons of normal physical appearance who have no recognisable features apart from obvious deficits in intellectual functioning and adaptive ability; however, its genetic etiology of most patients has remained unknown. The main purpose of this study was to fine map and identify specific causal gene(s) by genotyping a NSID family cohort using a panel of markers encompassing a target region reported in a previous work. A total of 139 families including probands, parents and relatives were included in the household survey, clinical examinations and intelligence tests, recruited from the Qinba mountain region of Shannxi province, western China. A collection of 34 tagged single nucleotide polymorphisms (tSNPs) spanning five microsatellite marker (STR) loci were genotyped using an iPLEX Gold assay. The association between tSNPs and patients was analyzed by family-based association testing (FBAT) and haplotype analysis (HBAT). Four markers (rs5974392, rs12164331, rs5929554 and rs3116911) in a block that showed strong linkage disequilibrium within the first three introns of the LOC101928437 locus were found to be significantly associated with NSID (all P<0.01) by the FBAT method for a single marker in additive, dominant and recessive models. The results of haplotype tests of this block also revealed a significant association with NSID (all P<0.05) using 2-window and larger HBAT analyses. These results suggest that LOC101928437 is a novel candidate gene for NSID in Han Chinese individuals of the Qinba region of China. Although the biological function of the gene has not been well studied, knowledge about this gene will provide insights that will increase our understanding of NSID development.

  19. A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test.

    Directory of Open Access Journals (Sweden)

    Shaohe Zhou

    Full Text Available Non-syndromic intellectual disability (NSID is mental retardation in persons of normal physical appearance who have no recognisable features apart from obvious deficits in intellectual functioning and adaptive ability; however, its genetic etiology of most patients has remained unknown. The main purpose of this study was to fine map and identify specific causal gene(s by genotyping a NSID family cohort using a panel of markers encompassing a target region reported in a previous work. A total of 139 families including probands, parents and relatives were included in the household survey, clinical examinations and intelligence tests, recruited from the Qinba mountain region of Shannxi province, western China. A collection of 34 tagged single nucleotide polymorphisms (tSNPs spanning five microsatellite marker (STR loci were genotyped using an iPLEX Gold assay. The association between tSNPs and patients was analyzed by family-based association testing (FBAT and haplotype analysis (HBAT. Four markers (rs5974392, rs12164331, rs5929554 and rs3116911 in a block that showed strong linkage disequilibrium within the first three introns of the LOC101928437 locus were found to be significantly associated with NSID (all P<0.01 by the FBAT method for a single marker in additive, dominant and recessive models. The results of haplotype tests of this block also revealed a significant association with NSID (all P<0.05 using 2-window and larger HBAT analyses. These results suggest that LOC101928437 is a novel candidate gene for NSID in Han Chinese individuals of the Qinba region of China. Although the biological function of the gene has not been well studied, knowledge about this gene will provide insights that will increase our understanding of NSID development.

  20. Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.

    Science.gov (United States)

    Ma, Yalin; Xiao, Yun; Zhang, Fengguo; Han, Yuechen; Li, Jianfeng; Xu, Lei; Bai, Xiaohui; Wang, Haibo

    2016-04-01

    Mutations in MYO7A gene have been reported to be associated with Usher Syndrome type 1B (USH1B) and nonsyndromic hearing loss (DFNB2, DFNA11). Most mutations in MYO7A gene caused USH1B, whereas only a few reported mutations led to DFNB2 and DFNA11. The current study was designed to investigate the mutations among a Chinese family with autosomal recessive hearing loss. In this study, we present the clinical, genetic and molecular characteristics of a Chinese family. Targeted capture of 127 known deafness genes and next-generation sequencing were employed to study the genetic causes of two siblings in the Chinese family. Sanger sequencing was employed to examine those variant mutations in the members of this family and other ethnicity-matched controls. We identified the novel compound heterozygous mutant alleles of MYO7A gene: a novel missense mutation c.3671C>A (p.A1224D) and a reported insert mutation c.390_391insC (p.P131PfsX9). Variants were further confirmed by Sanger sequencing. These two compound heterozygous variants were co-segregated with autosomal recessive hearing loss phenotype. The gene mutation analysis and protein sequence alignment further supported that the novel compound heterozygous mutations were pathogenic. The novel compound heterozygous mutations (c.3671C>A and c.390_391insC) in MYO7A gene identified in this study were responsible for the autosomal recessive sensorineural hearing loss of this Chinese family. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  1. Deaf mobile application accessibility requirements

    Science.gov (United States)

    Nathan, Shelena Soosay; Hussain, Azham; Hashim, Nor Laily

    2016-08-01

    Requirement for deaf mobile applications need to be analysed to ensure the disabilities need are instilled into the mobile applications developed for them. Universal design is understandable to comply every user needs, however specific disability is argued by the authors to have different need and requirements. These differences are among the reasons for these applications being developed to target for a specific group of people, however they are less usable and later abandoned. This study focuses on deriving requirements that are needed by the deaf in their mobile applications that are meant specifically for them. Studies on previous literature was conducted it can be concluded that graphic, text, multimedia and sign language interpreter are among mostly required features to be included in their mobile application to ensure the applications are usable for this community.

  2. PERSONAL IDENTITY IN DEAF ADOLESCENTS

    Directory of Open Access Journals (Sweden)

    Joanna KOSSEWSKA

    2008-06-01

    Full Text Available The purpose of this study was to investigate the factors influencing the identity deaf adolescents. The study involved 67 deaf adolescents (38 boys and 29 girls aged 16 to 19 students of secondary school. Ninety-three hearing children constituted a comparison group. The structure of identity was explored on the basis of identification references given by the subjects who were to reply in writing, 20 times running, to the question: „Who Am I?” the test, adapted from M. H. Kuhn and T. S. McPartland by Martines and Silvestre (1995 given in written and signed mode.Results showed that the hearing status as well as mode of communication influence the description of personal identity. It was found that deaf adoles­cents used more descriptions especially in the fol­lowing categories: Civil Status, Body and Physical Appearance, Tastes and Activities, Friendship and Relationships, Personal and Social Situation, Negative Personal Traits, and Neutral Personality Traits. Although this study could demonstrate im­pact independent variables on identity, the data raise the need for further, preferably longitudinal, research. This complex phenomenon has to be examined more closely.Combined self-descriptive processes lead to the development of an organized, learned and dynamic identity, and subjective description of an individ­ual has strong emotional consequences for the in­dividual in question.

  3. THIAMINE–RESPONSIVE MEGALOBLASTIC ANEMIA, SENSORINEURAL DEAFNESS AND DIABETES MELLITUS

    Directory of Open Access Journals (Sweden)

    M. Kadivar R. Moradian

    2006-11-01

    Full Text Available Abstract- The syndrome of diabetes mellitus, sensorineural deafness and megaloblastic anemia dose not result from thiamine deficiency. The previous reported patients had no sign of beriberi, had normal nutrition, and had no evidence of malabsorption. The features of this syndrome with apparent inheritance of autosomal recessive trait may define this puzzling syndrome as a true thiamine dependency state. The first Iranian patient was described by Vossough et al. in 1995. We found nine new cases with diagnostic criteria of thiamine responsive megaloblastic anemia during eight years of our study. In two patients, presentation of diabetes and anemia was concomitant. All of them were deaf with sensorineural hearing loss which was detected in infancy up to two years of age. The presence of congenital valvular heart disease was eliminated by normal echocardiography, but cardiomyopathy was discovered in two. Nonspecific amino-aciduria was discovered in three but urinary screening tests for hereditary orotic aciduria were negative. Ox-Phos biochemistry of muscle mitochondria which demonstrates severe defect in complexes I, III, IV in diabetes mellitus associated with deafness, were done but was unremarkable in our patients. Urinary methylmalonic acid and methyl malonyl carnitine by GS/MS and TMS was done in our patients and showed abnormal results in six patients. Thiamine gene, SLC 19A2, was detected in four patients.

  4. Metaphor Comprehension by Deaf Young Adults

    Science.gov (United States)

    Gold, Rinat; Segal, Osnat

    2017-01-01

    In the present study, we compared the processing of both conventional and novel metaphors by deaf versus hearing young adults. Eighteen deaf participants with severe-to-profound hearing loss and 18 controls matched for age, sex, and years of education were presented with word pairs of 4 types (literal, conventional metaphors, novel metaphors, and…

  5. Social Information Processing in Deaf Adolescents

    Science.gov (United States)

    Torres, Jesús; Saldaña, David; Rodríguez-Ortiz, Isabel R.

    2016-01-01

    The goal of this study was to compare the processing of social information in deaf and hearing adolescents. A task was developed to assess social information processing (SIP) skills of deaf adolescents based on Crick and Dodge's (1994; A review and reformulation of social information-processing mechanisms in children's social adjustment.…

  6. Ophthalmologic abnormalities among deaf students in Kaduna ...

    African Journals Online (AJOL)

    ... syndrome (0.6%) and Ushers syndrome (0.6%). Refractive error was the most common (7.9%). Conclusion: Since these deaf students use their sight to compensate for the deafness, routine ophthalmologic examination should be carried out on them so that ophthalmologic abnormalities are detected early and treatment ...

  7. Communities of Practice: Literacy and Deaf Children

    Science.gov (United States)

    Kristoffersen, Ann-Elise; Simonsen, Eva

    2016-01-01

    This article aims to discuss young deaf children's access to literacy within a sociocultural perspective. We introduce the concept of communities of practice as an aspect in early literacy development for young deaf children. Preschools are learning communities and thus constitute communities of practice. Our discussion on the use of communities…

  8. Translanguaging, Learning and Teaching in Deaf Education

    Science.gov (United States)

    Swanwick, Ruth

    2017-01-01

    This paper critiques the role of translanguaging in deaf education by examining how, and under what conditions, translanguaging practices can enhance learning and teaching. The paper explores the premise that translanguaging represents an additive view of bilingualism and multilingualism for deaf learners and offers an innovative departure from,…

  9. BIBLIOGRAPHY ON DEAFNESS, A SELECTED INDEX.

    Science.gov (United States)

    FELLENDORF, GEORGE W.; AND OTHERS

    APPROXIMATELY 3,200 REFERENCES ARE LISTED BY AUTHOR AND GROUPED ACCORDING TO SUBJECT. ALL REFERENCES ARE ARTICLES FROM "THE VOLTA REVIEW," 1899 TO 1965, OR "THE AMERICAN ANNALS OF THE DEAF," 1847 TO 1965. AN AUTHOR INDEX IS INCLUDED. THIS DOCUMENT WAS PUBLISHED BY THE ALEXANDER GRAHAM BELL ASSOCIATION FOR THE DEAF, INC., THE…

  10. Deaf-Blind Perspectives, 2000-2001.

    Science.gov (United States)

    Malloy, Peggy, Ed.

    2001-01-01

    These three issues of "Deaf-Blind Perspectives" feature the following articles: (1) "A Group for Students with Usher Syndrome in South Louisiana" (Faye Melancon); (2) "Simply Emily," which discusses a budding friendship between a girl with deaf-blindness and a peer; (3) "Intervener Update" (Peggy Malloy and…

  11. Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.

    Science.gov (United States)

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R; Buxó, Carmen J; Castilla, Eduardo E; Christensen, Kaare; Deleyiannis, Frederic W B; Field, Leigh L; Hecht, Jacqueline T; Moreno, Lina; Orioli, Ieda M; Padilla, Carmencita; Vieira, Alexandre R; Wehby, George L; Feingold, Eleanor; Weinberg, Seth M; Murray, Jeffrey C; Marazita, Mary L

    2017-06-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. The "missing" heritability may be found in rare variants, copy number variants, or interactions. In this study, we investigated the role of low-frequency variants genotyped in 1995 cases and 1626 controls on the Illumina HumanCore + Exome chip. We performed two statistical tests, Sequence Kernel Association Test (SKAT) and Combined Multivariate and Collapsing (CMC) method using two minor allele frequency cutoffs (1% and 5%). We found that a burden of low-frequency coding variants in N4BP2, CDSN, PRTG, and AHRR were associated with increased risk of NSCL/P. Low-frequency variants in other genes were associated with decreased risk of NSCL/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL/P. © 2017 Wiley Periodicals, Inc.

  12. Signposts to Development: Theory of Mind in Deaf Children.

    Science.gov (United States)

    Woolfe, Tyron; Want, Stephen C.; Siegal, Michael

    2002-01-01

    Two studies investigated the effect of language input on theory of mind by comparing the performance of deaf native-signing children (ages 4 to 8) raised by deaf signing parents and deaf late-signing children raised by hearing parents on "thought picture" measures of theory of mind. Findings indicated that deaf late signers showed…

  13. Violence against Deaf Women: Effect of Partner Hearing Status

    Science.gov (United States)

    Anderson, Melissa L.; Kobek Pezzarossi, Caroline M.

    2014-01-01

    Using a sample of Deaf female undergraduate students, the current study sought to investigate the prevalence, correlates, and characteristics of intimate partner violence victimization in hearing-Deaf and Deaf-Deaf relationships. Initial results suggest that similarities in hearing status and communication preference are associated with increased…

  14. Emotional Availability and Touch in Deaf and Hearing Dyads

    Science.gov (United States)

    Paradis, Grace; Koester, Lynne Sanford

    2015-01-01

    In recent years, increasing attention has been given to the development of deaf children, though few studies have included Deaf parents. The present study examined emotional availability (EA) and functions of touch used by Deaf or hearing parents with hearing or deaf infants during free play. Sixty dyads representing four hearing status groups…

  15. Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Wyszynski, D.F. [Johns Hopkins Univ., Baltimore, MD (United States)]|[National Center for Human Genome Research, Bethesda, MD (United States); Lewanda, A.F. [Johnson Hopkins Hospital, Baltimore, MD (United States)]|[Children`s National Medical Center, Washington, DC (United States); Beaty, T.H. [Johns Hopkins Univ., Balitomre, MD (United States)

    1996-12-30

    Despite considerable research, the cause of non-syndromic cleft lip with or without cleft palate (NSCLP) is still an enigma. Case-control and cohort studies have searched for environmental factors that might influence the development of this common malformation, such as maternal cigarette smoking, periconceptional supplementation of folic acid and multivitamins, agricultural chemical use, and place of residence, among others. However, these studies are subject to numerous biases, and their results have often been contradictory and inconclusive. 41 refs., 1 fig.

  16. Beethoven's deafness, the defiance of a genius

    Directory of Open Access Journals (Sweden)

    Bento, Ricardo Ferreira

    2009-09-01

    Full Text Available Introduction: Ludwig van Beethoven, one of the greatest composers in History, was tormented for his whole life by a progressive deafness without definitive diagnosis. Many authors published studies about the etiologic possibilities of the deafness of the music genius with different explanations about his auditory loss. In this work, the author discusses the implications of Beethoven's progressive deafness to the creation of his word, as well as etiologic assumptions of his disease. Would Beethoven have had the same ingeniousness he showed in his symphonies if he did not have hypacusis and tinnitus? What is the influence of his deafness on his work and life? Could he have had a more precise diagnosis and specially a treatment nowadays? Would we have the brilliant composer if he had deafness today? We surely could not have!

  17. Environmental assessment: Deaf Smith County site, Texas

    International Nuclear Information System (INIS)

    1986-05-01

    In February 1983, the US Department of Energy (DOE) identified a location in Deaf Smith County, Texas, as one of nine potentially acceptable sites for a mined geologic repository for spent nuclear fuel and high-level radioactive waste. To determine their suitability, the Deaf Smith County site and the eight other potentially sites have been evaluated in accordance with the DOE's General Guidelines for the Recommendation of Sites for the Nuclear Waste Repositories. The Deaf Smith County site is in the Permian Basin, which is one of five distinct geohydrologic settings considered for the first repository. On the basis of the evaluations reported in this EA, the DOE has found that the Deaf Smith County site is not disqualified under the guidelines. On the basis of these findings, the DOE is nominating the Deaf Smith County site as one of the five sites suitable for characterization. 591 refs., 147 figs., 173 tabs

  18. Environmental assessment: Deaf Smith County site, Texas

    Energy Technology Data Exchange (ETDEWEB)

    1986-05-01

    In February 1983, the US Department of Energy (DOE) identified a location in Deaf Smith County, Texas, as one of nine potentially acceptable sites for a mined geologic repository for spent nuclear fuel and high-level radioactive waste. To determine their suitability, the Deaf Smith County site and the eight other potentially sites have been evaluated in accordance with the DOE's General Guidelines for the Recommendation of Sites for the Nuclear Waste Repositories. The Deaf Smith County site is in the Permian Basin, which is one of five distinct geohydrologic settings considered for the first repository. On the basis of the evaluations reported in this EA, the DOE has found that the Deaf Smith County site is not disqualified under the guidelines. On the basis of these findings, the DOE is nominating the Deaf Smith County site as one of the five sites suitable for characterization. 591 refs., 147 figs., 173 tabs.

  19. Modeling the autistic cell: iPSCs recapitulate developmental principles of syndromic and nonsyndromic ASD.

    Science.gov (United States)

    Ben-Reuven, Lihi; Reiner, Orly

    2016-06-01

    The opportunity to model autism spectrum disorders (ASD) through generation of patient-derived induced pluripotent stem cells (iPSCs) is currently an emerging topic. Wide-scale research of altered brain circuits in syndromic ASD, including Rett Syndrome, Fragile X Syndrome, Angelman's Syndrome and sporadic Schizophrenia, was made possible through animal models. However, possibly due to species differences, and to the possible contribution of epigenetics in the pathophysiology of these diseases, animal models fail to recapitulate many aspects of ASD. With the advent of iPSCs technology, 3D cultures of patient-derived cells are being used to study complex neuronal phenotypes, including both syndromic and nonsyndromic ASD. Here, we review recent advances in using iPSCs to study various aspects of the ASD neuropathology, with emphasis on the efforts to create in vitro model systems for syndromic and nonsyndromic ASD. We summarize the main cellular activity phenotypes and aberrant genetic interaction networks that were found in iPSC-derived neurons of syndromic and nonsyndromic autistic patients. © 2016 Japanese Society of Developmental Biologists.

  20. BILINGUALISM: MULTICULTURALISM HOLOPRAXIOLOGY OF THE VENEZUELAN DEAF

    Directory of Open Access Journals (Sweden)

    Héctor Florencio Martínez Pérez

    2014-04-01

    Full Text Available The formation of the child has been made regularly and without many prejudices or tbacks,  until this had some physical characteristic or perceptual, who twisted his attention.  To those who were born with the inability to listen or hear properly, excluded in all respects. At the end of the 20th century, the deaf began to defend their identity and differed between Deafness (lack of hearing of deafness, with "S", which is a socio-anthropological perspective, which includes the use of sign language and the learning of reading and writing of the Spanish (bilingualism in their training. This research had as general objective to unveil bilingualism from an intercultural intersubjectivity of the deaf in Venezuela by applying a qualitative related paradigm with methodology fenomenologica-hermeneutica of Max Van Manen. The information collected observing and interviewing in depth (12 deaf students, parents or representatives (6, (3 researchers and educational specialists deaf and listeners (12. To analyze and triangulate information, obtained the following conclusions about the bilingual deaf: their physical and intellectual abilities are exactly the same to the listeners;  they can achieve the necessary qualification for any job; is required the language of signs so that you can put into practice the language; those who have the organizational capacity to develop oral language, it should not hinder him this opportunity, without detriment to the learning of the language of signs and the systematic training of the deaf teachers and deaf family, educational managers, political and employer of the deaf is essentially required.

  1. Deaf English--An Investigation of the Written English Competence of Deaf Adolescents. Technical Report No. 236.

    Science.gov (United States)

    Charrow, Veda R.

    Presented is support for the existence of "Deaf English," a non-standard dialect common to the prelingually deaf; and reported is an investigation of the written English competence of deaf adolescents. In the first half of the document the author discusses the historical background of deaf education and the linguistic and cognitive abilities of…

  2. RELATION OF DEAF PERSONS TOWARDS BILINGUALISM AS COMMUNICATION MODE

    OpenAIRE

    Naim Salkić

    2013-01-01

    Bilingualism of a deaf child implies concurrent cognition and usage of sign language, as community language and oral-voice language as language of greater community in which deaf persons live. Today, most authors consider that deaf persons should know both of these languages and that deaf persons need to be educated in both languages, because of their general communication and complete psycho-social development. Through research on sample of 80 deaf examinees, we affirmed the kind...

  3. Computational solution for the auxiliary in the literacy of deaf

    Directory of Open Access Journals (Sweden)

    João Carlos Lopes Fernandes

    2016-11-01

    Full Text Available The learning of the deaf is a great challenge for educators, especially in Portuguese-speaking course. Brazilian schools are not prepared for suits with deaf, because they lack trained professionals. Current Brazilian educational policies, seeking socialize all deaf and not deaf students. The Brazilian deaf community uses LIBRAS, Brazilian sign language as their main form of communication between them. Integrating LBS and Portuguese is one of the main current challenges and the use of computers has helped a lot.

  4. Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

    DEFF Research Database (Denmark)

    Winkelmann, Juliane; Lin, Ling; Schormair, Barbara

    2012-01-01

    to HDAC2. It is also highly expressed in immune cells and required for the differentiation of CD4+ into T regulatory cells. Mutations in exon 20 of this gene were recently reported to cause hereditary sensory neuropathy with dementia and hearing loss (HSAN1). Our mutations are all located in exon 21......Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT...

  5. On the possibilities and limits of "DEAF DEAF SAME": Tourism and empowerment camps in Adamorobe (Ghana, Bangalore and Mumbai (India.

    Directory of Open Access Journals (Sweden)

    Michele Ilana Friedner

    2014-06-01

    Full Text Available This article qualitatively analyzes the ways that the discourse of "deaf universalism" circulates within two common deaf practices: tourism and engaging in interventions. Arguing that the largely Northern-situated discipline of Deaf Studies does not adequately examine how deaf bodies and discourses travel, ethnographic data compiled in India and Ghana during transnational encounters is employed to examine how claims of "sameness" and "difference" are enacted and negotiated. Similarly, this article examines how deaf individuals and groups deploy the concepts of deaf "heavens" and "hells" to analyze their travel experiences and justify interventions. We argue that deaf travelers and those engaging in interventions, mostly from Northern countries, employ teleological concepts that they attempt to impose on deaf "others." Adopting a critical approach, this article argues for the importance of carving out a space within Deaf Studies for allowing non-Northern concepts to come to the fore. Keywords: Deaf, Development, Universalism, Discourse, India, Ghana

  6. Literatura Surda/Deaf Literature

    Directory of Open Access Journals (Sweden)

    Lodenir Becker Karnopp

    2006-01-01

    Full Text Available O objetivo do presente artigo é proceder a uma análise dos livros de literatura infantil Cinderela Surda e Rapunzel Surda, focalizando os sentidos produzidos sobre identidades e diferenças. As análises desses livros pretendem contribuir para a discussão da produção de uma literatura surda, que está vinculada às discussões sobre cultura e identidade. Na investigação desses materiais, os textos e as imagens produzidas evidenciam que os autores buscam o caminho da auto-representação do grupo de surdos, através da luta pelo estabelecimento do que reconhecem como suas identidades e suas diferenças. Tais evidências estão no uso da língua de sinais, em suas formas de narrar as histórias e/ou de adaptar histórias clássicas, tendo como base suas formas de existência, suas formas de ler, traduzir, conceber e julgar os produtos culturais que consomem e que produzem. This article aims to present an analysis of the fairy tales, Deaf Cinderella and Deaf Rapunzel, focusing on the meanings produced from identities and differences. The analyses of these two books intend to give a contribution to the discussion on the production of deaf literature, which is linked to the discussions on culture and identity. In the investigation of these books, the texts and the images produced show that the authors seek the path to self- representation of the deaf community, through the struggle for the establishment of what they recognize as their identities and differences. Such evidences are in the use of sign language, in their ways of narrating their stories and/or of adapting classic fairy tales, having as a basis their existential ways of being, their ways of reading, translating, conceiving and judging the cultural products which they consume and produce.

  7. Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.

    Directory of Open Access Journals (Sweden)

    Cinzia Ambrosi

    Full Text Available Human Connexin26 gene mutations cause hearing loss. These hereditary mutations are the leading cause of childhood deafness worldwide. Mutations in gap junction proteins (connexins can impair intercellular communication by eliminating protein synthesis, mis-trafficking, or inducing channels that fail to dock or have aberrant function. We previously identified a new class of mutants that form non-functional gap junction channels and hemichannels (connexons by disrupting packing and inter-helix interactions. Here we analyzed fourteen point mutations in the fourth transmembrane helix of connexin26 (Cx26 that cause non-syndromic hearing loss. Eight mutations caused mis-trafficking (K188R, F191L, V198M, S199F, G200R, I203K, L205P, T208P. Of the remaining six that formed gap junctions in mammalian cells, M195T and A197S formed stable hemichannels after isolation with a baculovirus/Sf9 protein purification system, while C202F, I203T, L205V and N206S formed hemichannels with varying degrees of instability. The function of all six gap junction-forming mutants was further assessed through measurement of dye coupling in mammalian cells and junctional conductance in paired Xenopus oocytes. Dye coupling between cell pairs was reduced by varying degrees for all six mutants. In homotypic oocyte pairings, only A197S induced measurable conductance. In heterotypic pairings with wild-type Cx26, five of the six mutants formed functional gap junction channels, albeit with reduced efficiency. None of the mutants displayed significant alterations in sensitivity to transjunctional voltage or induced conductive hemichannels in single oocytes. Intra-hemichannel interactions between mutant and wild-type proteins were assessed in rescue experiments using baculovirus expression in Sf9 insect cells. Of the four unstable mutations (C202F, I203T, L205V, N206S only C202F and N206S formed stable hemichannels when co-expressed with wild-type Cx26. Stable M195T hemichannels

  8. Making public mental-health services accessible to deaf consumers: Illinois Deaf Services 2000.

    Science.gov (United States)

    Munro-Ludders, Bruce; Simpatico, Thomas; Zvetina, Daria

    2004-01-01

    Illinois Deaf Services 2000 (IDS2000), a public/private partnership, promotes the creation and implementation of strategies to develop and increase access to mental health services for deaf, hard of hearing, late-deafened, and deaf-blind consumers. IDS2000 has resulted in the establishment of service accessibility standards, a technical support and adherence monitoring system, and the beginnings of a statewide telepsychiatry service. These system modifications have resulted in increase by 60% from baseline survey data in the number of deaf, hard of hearing, late-deafened, and deaf-blind consumers identified in community mental-health agencies in Illinois. Depending on the situation of deaf services staff and infrastructure, much of IDS2000 could be replicated in other states in a mostly budget-neutral manner.

  9. Sensorineural Deafness, Distinctive Facial Features and Abnormal Cranial Bones

    Science.gov (United States)

    Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R.; Matsushita, Mark; Raskind, Wendy H.

    2008-01-01

    The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. PMID:18553554

  10. Music and Deaf Culture: Images from the Media and Their Interpretation by Deaf and Hearing Students.

    Science.gov (United States)

    Darrow; Loomis

    1999-01-01

    The purpose of the study was threefold: (a) to examine how the visual media have portrayed the subject of music and the deaf, (b) to verify the validity of these portrayals with members of the deaf community, and (c) to compare and contrast deaf and hearing audiences' impressions of these portrayals. An additional purpose of the research was to examine the results in light of possible misconceptions that may be construed by music therapists and music educators based upon the media's representation of the relationship between music and deaf culture. Since music therapists and music educators are the primary persons responsible for the music instruction of students in school programs for deaf and hard-of-hearing students, it is particularly important that they receive accurate messages about the relationship of music to deaf culture. Fifty deaf (n = 25) and hearing (n = 25) undergraduate college students individually viewed motion picture and television excerpts related to music and the deaf. Subjects were instructed to take notes as needed regarding the content of each excerpt and their impressions. Students were then interviewed in their native language, English or American Sign Language, as to their interpretations and perceptions regarding these excerpts and their accuracy. Interviews of the deaf students were translated into English from American Sign Language by trained interpreters. Written transcriptions were then made of the interpreters' English translations of the interviews with deaf students and of the verbal interviews with hearing students. Interview transcripts from both groups were coded and analyzed for recurring themes and patterns using content analysis. Data analysis revealed cultural patterns for the two groups, impressions specific to individual subjects, and trends in communication style and content for the two groups. Implications for music therapists and music educators are given regarding the influence of the media, characteristics of deaf

  11. Stigma in Mothers of Deaf Children

    Directory of Open Access Journals (Sweden)

    Hossein Ebrahimi

    2015-03-01

     Results: Results showed that most mothers suffer from stigma due to having a deaf child. The mean stigma score was 96.48 ±27.72. In total, 24.4% of mothers reported that they had received strange and mocking looks; 72.2% regarded child deafness as a sign of divine retribution; and 33.3% felt ashamed of their child’s deafness. There was an inverse relationship between the mother’s level of education and mean stigma scores (P

  12. Suicide in deaf populations: a literature review

    Directory of Open Access Journals (Sweden)

    Kapur Navneet

    2007-10-01

    Full Text Available Abstract Background Studies have found that deaf individuals have higher rates of psychiatric disorder than those who are hearing, while at the same time encountering difficulties in accessing mental health services. These factors might increase the risk of suicide. However, the burden of suicidal behaviour in deaf people is currently unknown. The aim of the present review was to provide a summary of literature on suicidal behaviour with specific reference to deaf individuals. The objectives of the review were to establish the incidence and prevalence of suicidal behaviour in deaf populations; describe risk factors for suicidal behaviour in deaf populations; describe approaches to intervention and suicide prevention that have been used in deaf populations. Methods A number of electronic databases (e.g. Medline, PsycINFO, CINAHL, EMBASE, Dissertation Abstracts International, Web of Science, ComDisDome, ASSIA, Education Sage Full Text, Google Scholar, and the grey literature databases FADE and SIGLE were explored using a combination of key words and medical subject headings as search terms. Reference lists of papers were also searched. The Science and Social Sciences Citation Index electronic databases were used to identify studies that had cited key papers. We also contacted experts and organisations with an interest in the field. Results Very few studies focussed specifically on suicide in deaf populations. Those studies that were included (n = 13 generally involved small and unrepresentative samples. There were limited data on the rate of suicidal behaviour in deaf people. One study reported evidence of hearing impairment in 0.2% of all suicide deaths. Another found that individuals with tinnitus seen in specialist clinics had an elevated rate of suicide compared to the general population. The rates of attempted suicide in deaf school and college students during the previous year ranged from 1.7% to 18%, with lifetime rates as high as 30

  13. Silencing Deafness: Displacing Disability in the Nineteenth Century

    Directory of Open Access Journals (Sweden)

    Esme Cleall

    2015-03-01

    Full Text Available This article traces the way in which the language of displacement and silence were used in nineteenth-century discussions of deafness and connects this tendency to the marginalised place deaf experience occupies historically. Throughout the nineteenth century, a period which saw the consolidation of ‘the deaf and dumb’ as a social category, the word ‘forgetting’ crept into numerous discussions of deafness by both deaf and hearing commentators. Some, such as the educationalist Alexander Graeme Bell, were overt in their desire to forget deafness, demanding disability was ‘bred out’ and deaf culture condemned to the forgotten past. Others used the term ambivalently and sometimes metaphorically discussing the deaf as ‘forgotten’ by society, and ‘children of silence’. Some even pleaded that people who were deaf were not forgotten. But, though varied, the use of the imagery of forgetting and silence to evoke deafness is recurrent, and may, therefore, be seen to reveal something about how deaf experience can be approached as a displacement where deafness was spatially and imaginatively marginalised. I argue that one of the consequences of the conceptual framing of deafness through the language of forgetting was actively to silence deafness and to neutralise the idea that disability should be marginal and could be forgotten.

  14. Black Deaf Individuals' Reading Skills: Influence of ASL, Culture, Family Characteristics, Reading Experience, and Education

    Science.gov (United States)

    Myers, Candace; Clark, M. Diane; Musyoka, Millicent M.; Anderson, Melissa L.; Gilbert, Gizelle L.; Agyen, Selina; Hauser, Peter C.

    2010-01-01

    Previous research on the reading abilities of Deaf individuals from various cultural groups suggests that Black Deaf and Hispanic Deaf individuals lag behind their White Deaf peers. The present study compared the reading skills of Black Deaf and White Deaf individuals, investigating the influence of American Sign Language (ASL), culture, family…

  15. When Being Deaf Is Centered: d/Deaf Women of Color's Experiences with Racial/Ethnic and d/Deaf Identities in College

    Science.gov (United States)

    Stapleton, Lissa

    2015-01-01

    Approximately 30% of d/Deaf students are successfully completing college; the reasons for such a low graduation rate is unknown (Destler & Buckly, 2011). Most research on d/Deaf college students lack racial/ethnic diversity within the study; thus, it is unclear how d/Deaf Students of Color are faring in higher education or what experiences…

  16. Steroid Treatments Equally Effective Against Sudden Deafness

    Science.gov (United States)

    ... NIGMS NIMH NIMHD NINDS NINR NLM CC CIT CSR FIC NCATS NCCIH OD About NIH Who We ... with sudden deafness should discuss the risks and benefits of both treatments with their doctor.” Related Links ...

  17. [Congenital sensorineural deafness and associated syndromes].

    Science.gov (United States)

    Moatti, L; Garabedian, E N; Lacombe, H; Spir-Jacob, C

    1990-01-01

    The etiology of perceptive deafness, especially the congenital variety, requires investigation. The presence of a variety of signs associated with deafness constitutes an "associated syndrome" and helps to define a possible genetic origin. These syndromes only represent a small percentage of overall causes of deafness in children, since at most they account for only 10% of cases. Certain syndromes are encountered more often or are well known, others are extremely rare or have only been described recently. The authors report six of these very rare syndromes discovered among their patients: a KID syndrome, a Leopard syndrome, a Norrie syndrome, a Jervell and Lange Nielsen syndrome, a recently described entity called CEE with deafness and an External Neuro-Cochleo-Pancreatic syndrome which would not appear to have been previously described.

  18. The Status of Interpreters for Deaf Canadians.

    Science.gov (United States)

    Schein, Jerome D.; Yarwood, Sara

    1990-01-01

    A national survey of 170 interpreters for deaf Canadians examined demographic characteristics; knowledge of sign; education; experience; employment; voluntary service; clients served; settings; earnings and fees; and opinions regarding their work, compensation, working conditions, ethics, and education. (JDD)

  19. Acoustics outreach program for the deaf

    Science.gov (United States)

    Vongsawad, Cameron T.; Berardi, Mark L.; Whiting, Jennifer K.; Lawler, M. Jeannette; Gee, Kent L.; Neilsen, Tracianne B.

    2016-03-01

    The Hear and See methodology has often been used as a means of enhancing pedagogy by focusing on the two strongest learning senses, but this naturally does not apply to deaf or hard of hearing students. Because deaf students' prior nonaural experiences with sound will vary significantly from those of students with typical hearing, different methods must be used to build understanding. However, the sensory-focused pedagogical principle can be applied in a different way for the Deaf by utilizing the senses of touch and sight, called here the ``See and Feel'' method. This presentation will provide several examples of how acoustics demonstrations have been adapted to create an outreach program for a group of junior high students from a school for the Deaf and discuss challenges encountered.

  20. Environmental assessment, Deaf Smith County site, Texas

    Energy Technology Data Exchange (ETDEWEB)

    1986-05-01

    The Nuclear Waste Policy Act of 1982 (42 USC sections 10101-10226) requires the environmental assessment of a proposed site to include a statement of the basis for nominating a site as suitable for characterization. Volume 2 provides a detailed statement evaluating the site suitability of the Deaf Smith County Site under DOE siting guidelines, as well as a comparison of the Deaf Smith County Site to the other sites under consideration. The evaluation of the Deaf Smith County Site is based on the impacts associated with the reference repository design, but the evaluation will not change if based on the Mission Plan repository concept. The second part of this document compares the Deaf Smith County Site to Davis Canyon, Hanford, Richton Dome and Yucca Mountain. This comparison is required under DOE guidelines and is not intended to directly support subsequent recommendation of three sites for characterization as candidate sites. 259 refs., 29 figs., 66 refs. (MHB)

  1. Environmental assessment: Deaf Smith County site, Texas

    Energy Technology Data Exchange (ETDEWEB)

    1986-05-01

    In February 1983, the US Department of Energy (DOE) identified a location in Deaf Smith County, Texas, as one of the nine potentially acceptable sites for mined geologic repository for spent nuclear fuel and high-level radioactive waste. To determine their suitability, the Deaf Smith County site and eight other potentially acceptable sites have been evaluated in accordance with the DOE's General Guidelines for the Recommendation of Sites for the Nuclear Waste Repositories. The Deaf Smith County site is in the Permian Basin, which is one of five distinct geohydrologic settings considered for the first repository. On the basis of the evaluations reported in this EA, the DOE has found that the Deaf Smith County site is not disqualified under the guidelines.

  2. Environmental assessment: Deaf Smith County site, Texas

    International Nuclear Information System (INIS)

    1986-05-01

    In February 1983, the US Department of Energy (DOE) identified a location in Deaf Smith County, Texas, as one of the nine potentially acceptable sites for mined geologic repository for spent nuclear fuel and high-level radioactive waste. To determine their suitability, the Deaf Smith County site and eight other potentially acceptable sites have been evaluated in accordance with the DOE's General Guidelines for the Recommendation of Sites for the Nuclear Waste Repositories. The Deaf Smith County site is in the Permian Basin, which is one of five distinct geohydrologic settings considered for the first repository. On the basis of the evaluations reported in this EA, the DOE has found that the Deaf Smith County site is not disqualified under the guidelines

  3. Environmental assessment, Deaf Smith County site, Texas

    International Nuclear Information System (INIS)

    1986-05-01

    The Nuclear Waste Policy Act of 1982 (42 USC sections 10101-10226) requires the environmental assessment of a proposed site to include a statement of the basis for nominating a site as suitable for characterization. Volume 2 provides a detailed statement evaluating the site suitability of the Deaf Smith County Site under DOE siting guidelines, as well as a comparison of the Deaf Smith County Site to the other sites under consideration. The evaluation of the Deaf Smith County Site is based on the impacts associated with the reference repository design, but the evaluation will not change if based on the Mission Plan repository concept. The second part of this document compares the Deaf Smith County Site to Davis Canyon, Hanford, Richton Dome and Yucca Mountain. This comparison is required under DOE guidelines and is not intended to directly support subsequent recommendation of three sites for characterization as candidate sites. 259 refs., 29 figs., 66 refs

  4. Vocational Orientation of the Deaf Pupils

    OpenAIRE

    Sobolevská, Šárka

    2017-01-01

    The main goal of the bachelor thesis is to learn about vocational orientation of deaf pupils in their last years of study at selected elementary schools for the Deaf and to compare the results to results of similar studies done with pupils without hearing impairment. Based on relevant scientific sources, the paper introduces general aspects that shape vocational orientation, also describes vocational development on D. E. Super's Career Development Theory. The thesis continues with characteriz...

  5. Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice

    International Nuclear Information System (INIS)

    Chen, Mo; Wang, Qin; Zhu, Gang-Hua; Hu, Peng; Zhou, Yuan; Wang, Tian; Lai, Ruo-Sha; Xiao, Zi-An; Xie, Ding-Hua

    2016-01-01

    The TPRN gene encodes taperin, which is prominently present at the taper region of hair cell stereocilia. Mutations in TPRN have been reported to cause autosomal recessive nonsyndromic deafness 79(DFNB 79). To investigate the role of taperin in pathogenesis of hearing loss, we generated TPRN knockout mice using TALEN technique. Sanger sequencing confirmed an 11 bp deletion at nucleotide 177–187 in exon 1 of TPRN, which results in a truncated form of taperin protein. Heterozygous TPRN +/− mice showed apparently normal auditory phenotypes to their wide-type (WT) littermates. Homozygous TPRN −/− mice exhibited progressive sensorineural hearing loss as reflected by auditory brainstem response to both click and tone burst stimuli at postnatal days 15 (P15), 30 (P30), and 60 (P60). Alex Fluor-594 phalloidin labeling showed no obvious difference in hair cell numbers in the cochlea between TPRN −/− mice and WT mice under light microscope. However, scanning electronic microscopy revealed progressive degeneration of inner hair cell stereocilia, from apparently normal at postnatal days 3 (P3) to scattered absence at P15 and further to substantial loss at P30. The outer hair cell stereocilia also showed progressive degeneration, though much less severe, Collectively, we conclude that taperin plays an important role in maintenance of hair cell stereocilia. Establishment of TPRN knockout mice enables further investigation into the function of this gene. - Highlights: • TPRN −/− mice were generated using TALEN technique. • TPRN −/− mice presented progressive hearing loss. • WT and TPRN −/− mice showed no difference in hair cell numbers. • TPRN −/− mice showed progressive degeneration of hair cell stereocilia.

  6. Two novel mutations in ILDR1 gene cause autosomal recessive ...

    Indian Academy of Sciences (India)

    In a recent screening programme on hearing loss (HL), we examined 17 common autosomal recessive nonsyndromic hearing loss (ARNSHL) genes in every consanguineous Ira- nian family with ARNSHL that was referred to our centre. We first screened GJB2 mutations and then utilized a panel of three to four short ...

  7. Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate - A Danish registry study

    Energy Technology Data Exchange (ETDEWEB)

    Christensen, K. [Aarhus Univ. (Denmark)]|[Odense Univ. Medical School (Denmark); Mitchell, L.E. [Aarhus Univ. (Denmark)]|[St. Louis Univ. School of Public Health, MO (United States)

    1996-01-01

    The finding of an association between genetic variation at the transforming growth-factor alpha (TGFA) locus and nonsyndromic isolated cleft palate (CP) represents a potentially important breakthrough in our understanding of this condition. The present study was undertaken to assess the feasibility of detecting linkage to putative CP-susceptibility loci, such as TGFA. To this end, the familial recurrence pattern for CP was evaluated to determine the most likely mode of inheritance for this condition. The study took advantage of the high ascertainment and uniform registration of CP in Denmark. In addition, the study utilized estimates of familial recurrence that were obtained by register linkage and, hence, were not subject to either recall bias or the potentially biasing influence of nonresponders. The recurrence risks for first-, second-, and third-degree relatives of 1,364 nonsyndromic CP probands were estimated to be 2.74% (72/2,628), 0.28% (3/1,068), and 0.00% (0/360), respectively. These estimates are close to published estimates based on questionnaire and interview data. The population prevalence for nonsyndromic CP was, however, found to be considerable higher than usually reported (0.058% [1,456/2,523,023]). Analyses of these and previously published data, using the method presented by Risch, indicated that major-locus or additive multilocus inheritance of CP is unlikely. The familial recurrence pattern was, however, consistent with CP being determined by several interacting loci. Under such a model, a single locus accounting for more than a sixfold increase in the risk to first-degree relatives of CP probands is unlikely, whereas a single locus accounting for a threefold increase provided a good fit to the data. Such a locus could be detected in a realistic sample of affected sib pairs. 26 refs., 3 tabs.

  8. Stigma in Mothers of Deaf Children

    Directory of Open Access Journals (Sweden)

    Hossein Ebrahimi

    2015-03-01

    Full Text Available Introduction: A deaf child creates a feeling of stigma in many hearing parents. Stigma in mothers can have a negative impact on a child’s treatment and rehabilitation process. Therefore, this study was conducted to evaluate the extent of stigma in mothers with deaf children.  Materials and Methods: This descriptive, cross-sectional study was conducted in 2013 among 90 mothers with deaf children. The data-collection instrument included the stigma scale in the mothers of children with disabilities. The reliability and validity of the instrument were confirmed through content validity and Cronbach’s alpha coefficient (α=86%, respectively. Data were analyzed using SPSS-15 software.   Results: Results showed that most mothers suffer from stigma due to having a deaf child. The mean stigma score was 96.48 ±27.72. In total, 24.4% of mothers reported that they had received strange and mocking looks; 72.2% regarded child deafness as a sign of divine retribution; and 33.3% felt ashamed of their child’s deafness. There was an inverse relationship between the mother’s level of education and mean stigma scores (P

  9. Multiple keratocystic odontogenic tumors in a non-syndromic minor patient: Report of an unusual case

    Directory of Open Access Journals (Sweden)

    Shalu Rai

    2013-01-01

    Full Text Available Keratocystic odontogenic tumor (KCOT is developmental odontogenic cysts of epithelial origin known for their potentially aggressive behavior and significant rate of recurrences. Single odontogenic cysts are very well documented in the literature. Multiple (KCOT are principle features of nevoid basal cell carcinoma syndrome (naevoid basal cell carcinoma syndrome; Gorlin-Goltz syndrome. We report an intriguing case of multiple KCOT in a non-syndromic patient simultaneously occurring in maxilla as well as in mandible with brief highlight on molecular data and the treatment modality.

  10. Access to English Language Acquisition in Ghana Schools for the Deaf: Are the Deaf Students Handicapped?

    Science.gov (United States)

    Obosu, Gideon Kwesi; Opoku-Asare, Nana Afia; Deku, Prosper

    2016-01-01

    This paper primarily discusses the challenges deaf students in Ghana are likely to grapple with as they access education provided for them in English language. The arguments discussed in this paper are supported by findings from a multiple site case study of five Schools for the Deaf purposively sampled from four regions of Ghana. Observations…

  11. 34 CFR 396.1 - What is the Training of Interpreters for Individuals Who Are Deaf and Individuals Who Are Deaf...

    Science.gov (United States)

    2010-07-01

    ... Who Are Deaf and Individuals Who Are Deaf-Blind program? 396.1 Section 396.1 Education Regulations of... SERVICES, DEPARTMENT OF EDUCATION TRAINING OF INTERPRETERS FOR INDIVIDUALS WHO ARE DEAF AND INDIVIDUALS WHO ARE DEAF-BLIND General § 396.1 What is the Training of Interpreters for Individuals Who Are Deaf and...

  12. Unusual bilateral dentigerous cysts in a nonsyndromic patient assessed by cone beam computed tomography

    Directory of Open Access Journals (Sweden)

    Thais Sumie Imada

    2014-01-01

    Full Text Available In the absence of syndromes, bilateral dentigerous cysts (DC located on the jaws are unusual. In English based language literature review, we only found eight reports of nonsyndromic bilateral dentigerous cyst associated with mandibular third molars. Therefore, we report the unusual occurrence of sizable nonsyndromic bilateral DC associated with mandibular impacted third molars in a 42-year-old Caucasian woman. The lesions were assessed by cone beam computed tomography (CBCT the right lesion showed approximately 23.64 mm and the left one, 16.57 mm diameter, both located intimately next to the mandibular canal. Bilateral surgical enucleation, related teeth excision of both third molars and plate for fixation placement on the right and bigger lesion, under general anesthesia was the final treatment choice. Clinical, radiographic and histopathological features confirmed diagnose of bilateral dentigerous cyst. Now-a-days, the patient is on 18 months radiograph follow-up with favorable osseous formation with no evidence of recurrence of the cysts.

  13. Characteristics of Individuals with Congenital and Acquired Deaf-Blindness

    Science.gov (United States)

    Dalby, Dawn M.; Hirdes, John P.; Stolee, Paul; Strong, J. Graham; Poss, Jeff; Tjam, Erin Y.; Bowman, Lindsay; Ashworth, Melody

    2009-01-01

    Using a standardized assessment instrument, the authors compared 182 adults with congenital deaf-blindness and those with acquired deaf-blindness. They found that those with congenital deaf-blindness were more likely to have impairments in cognition, activities of daily living, and social interactions and were less likely to use speech for…

  14. "The Real World": Workplace Literacy for Deaf Adults.

    Science.gov (United States)

    Rach, Leslie; Dreher, Mariam Jean

    1998-01-01

    Examines three work sites employing deaf individuals (graduates of Gallaudet University), investigating how much time deaf adults spend reading and writing on the job; what types of reading and writing activities they engage in; how deaf employees communicate with their hearing supervisors/co-workers; and what their perceptions are of literacy…

  15. Influences on Facial Emotion Recognition in Deaf Children

    Science.gov (United States)

    Sidera, Francesc; Amadó, Anna; Martínez, Laura

    2017-01-01

    This exploratory research is aimed at studying facial emotion recognition abilities in deaf children and how they relate to linguistic skills and the characteristics of deafness. A total of 166 participants (75 deaf) aged 3-8 years were administered the following tasks: facial emotion recognition, naming vocabulary and cognitive ability. The…

  16. Reading Efficiency of Deaf and Hearing People in Spanish

    Science.gov (United States)

    Moreno-Pérez, Francisco J.; Saldaña, David; Rodríguez-Ortiz, Isabel R.

    2015-01-01

    Different studies have showed poor reading performance in the deaf compared to the hearing population. This has overshadowed the fact that a minority of deaf children learns to read successfully and reaches levels similar to their hearing peers. We analyze whether deaf people deploy the same cognitive and learning processes in reading as their…

  17. Reaching the Summit: Deaf Adults as Essential Partners in Education

    Science.gov (United States)

    Bourne-Firl, Bridgetta

    2016-01-01

    How do we reach the summit in terms of supporting the best transition possible for each young deaf or hard of hearing individual in the United States? Should professionals who are hearing work alone to succeed with deaf and hard of hearing students? No matter how good the intention, if we want deaf and hard of hearing students to transition from…

  18. 77 FR 20553 - Relay Services for Deaf-Blind Individuals

    Science.gov (United States)

    2012-04-05

    ... for Deaf-Blind Individuals AGENCY: Federal Communications Commission. ACTION: Final rule; waiver of requirement. SUMMARY: In this document, the Commission conditionally waives the requirement for National Deaf... participants to fully meet the needs of eligible low- income, deaf-blind individuals in a timely manner. DATES...

  19. Effects on Deaf Patients of Medication Education by Pharmacists

    Science.gov (United States)

    Hyoguchi, Naomi; Kobayashi, Daisuke; Kubota, Toshio; Shimazoe, Takao

    2016-01-01

    Deaf people often experience difficulty in understanding medication information provided by pharmacists due to communication barriers. We held medication education lectures for deaf and hard of hearing (HH) individuals and examined the extent to which deaf participants understood medication-related information as well as their attitude about…

  20. The Relationship Between Cochlear Implants and Deaf Identity

    DEFF Research Database (Denmark)

    Chapman, Madeleine; Dammeyer, Jesper

    2017-01-01

    from a Danish national survey of deaf adults, the authors examined the significance of having (or not having) a CI in regard to identity (categorized as deaf, hearing, bicultural, and marginal) and various related factors concerning social participation and experiences of being deaf. Cochlear...

  1. The Importance of Early Sign Language Acquisition for Deaf Readers

    Science.gov (United States)

    Clark, M. Diane; Hauser, Peter C.; Miller, Paul; Kargin, Tevhide; Rathmann, Christian; Guldenoglu, Birkan; Kubus, Okan; Spurgeon, Erin; Israel, Erica

    2016-01-01

    Researchers have used various theories to explain deaf individuals' reading skills, including the dual route reading theory, the orthographic depth theory, and the early language access theory. This study tested 4 groups of children--hearing with dyslexia, hearing without dyslexia, deaf early signers, and deaf late signers (N = 857)--from 4…

  2. Deaf and Hearing Children: A Comparison of Peripheral Vision Development

    Science.gov (United States)

    Codina, Charlotte; Buckley, David; Port, Michael; Pascalis, Olivier

    2011-01-01

    This study investigated peripheral vision (at least 30[degrees] eccentric to fixation) development in profoundly deaf children without cochlear implantation, and compared this to age-matched hearing controls as well as to deaf and hearing adult data. Deaf and hearing children between the ages of 5 and 15 years were assessed using a new,…

  3. Sensitivity to Conversational Maxims in Deaf and Hearing Children

    Science.gov (United States)

    Surian, Luca; Tedoldi, Mariantonia; Siegel, Michael

    2010-01-01

    We investigated whether access to a sign language affects the development of pragmatic competence in three groups of deaf children aged 6 to 11 years: native signers from deaf families receiving bimodal/bilingual instruction, native signers from deaf families receiving oralist instruction and late signers from hearing families receiving oralist…

  4. Self-Esteem and Coping Strategies among Deaf Students

    Science.gov (United States)

    Jambor, Edina; Elliott, Marta

    2005-01-01

    Research studies on the determinants of self-esteem of deaf individuals often yield inconsistent findings. The current study assessed the effects on self-esteem of factors related to deafness, such as the means of communication at home and severity of hearing loss with hearing aid, as well as the coping styles that deaf people adopt to cope with…

  5. Issues in the Sexual Molestation of Deaf Youth.

    Science.gov (United States)

    Vernon, McCay; Miller, Katrina R.

    2002-01-01

    Discussion of issues involved in sexual abuse of deaf youth in schools considers characteristics of pedophiles and hebephiles and how sexual offenders are dealt with in the criminal justice system. It suggests ways to prevent sexual abuse of children who are deaf and what to look for in identifying deaf children who are being victimized. (Contains…

  6. Teachers' Perceptions of Communication Needs of Deaf Children in ...

    African Journals Online (AJOL)

    Communication has been identified as one of the greatest areas of difficulty for the deaf. Both the receptive and expressive communication pose barriers in almost all aspects of life of the deaf. This study endeavors to examine teachers' perceptions of communication needs of deaf children in Kenyan school system.

  7. Rubella Deaf-Blind Child: Implications of Psychological Assessment. Proceedings.

    Science.gov (United States)

    Rouin, Carole

    Presented are proceedings of a conference involving authorities in testing and evaluating the blind, deaf, and deaf-blind. In a paper titled "Psychological Implications of Assessing the Deaf", C. Goetzinger discusses references used in audiology, anatomy and physiology of the ear, degrees of hearing impairment, and implications of the various…

  8. Deaf Employees' Empowerment in Two Different Communication Environments.

    Science.gov (United States)

    Backenroth, G. A. M.

    1997-01-01

    This study with 64 deaf employees working in either signing work groups or nonsigning workgroups found that employees' perceived empowerment was significantly higher in the signing work groups. Deaf associates in signing work groups experienced greater psychological stress and role conflicts, whereas deaf associates in nonsigning groups…

  9. [History of the rehabilitation of the deaf child].

    Science.gov (United States)

    Noyon, P

    1995-01-01

    As a deaf mute, because mute and more often than not deaf, and then deaf and dumb, because deaf and therefore dumb, the deaf child inevitably deprived of spontaneous speech was considered up to the end of the middle ages as having no possibility of language or of thought, left to the sorry fate of being part of a sporadic population expressing themselves by gestures, a language bereft of past and future, understood only by a few members of the family or occasionally deaf neighbours. During the Renaissance, it appeared that with specific education the deaf child could talk, have a language, and therefore thought. Due merit must be given to 16th century Spain. In the 18th century, France discovered that gestures can also be a language, collated and constructed thanks to the collaboration of the partially deaf. From then on, gestual language flourished in America whilst the rest of Europe continued to prefer oral rehabilitation. With current medical progress, the deaf are no longer deaf. Deafness in the child still exists, however, but there are no longer any mutes. The deaf child can achieve access to language, which may be oral or gestual. The choice between these two modes of expression is still very tropical.

  10. X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate

    DEFF Research Database (Denmark)

    Kimani, Jane W; Shi, Min; Daack-Hirsch, Sandra

    2007-01-01

    Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X c...

  11. Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R

    2017-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. ...

  12. Symptoms of Autism in Males with Fragile X Syndrome: A Comparison to Nonsyndromic ASD Using Current ADI-R Scores

    Science.gov (United States)

    McDuffie, Andrea; Thurman, Angela John; Hagerman, Randi J.; Abbeduto, Leonard

    2015-01-01

    Symptoms of autism are frequent in males with fragile X syndrome (FXS), but it is not clear whether symptom profiles differ from those of nonsyndromic ASD. Using individual item scores from the Autism Diagnostic Inventory-Revised, we examined which current symptoms of autism differed in boys with FXS relative to same-aged boys diagnosed with…

  13. On the possibilities and limits of "DEAF DEAF SAME": Tourism and empowerment camps in Adamorobe (Ghana), Bangalore and Mumbai (India).

    OpenAIRE

    Michele Ilana Friedner; Annelies Kusters

    2014-01-01

    This article qualitatively analyzes the ways that the discourse of "deaf universalism" circulates within two common deaf practices: tourism and engaging in interventions. Arguing that the largely Northern-situated discipline of Deaf Studies does not adequately examine how deaf bodies and discourses travel, ethnographic data compiled in India and Ghana during transnational encounters is employed to examine how claims of "sameness" and "difference" are enacted and negotiated. Similarly, this ar...

  14. Stigma in mothers of deaf children.

    Science.gov (United States)

    Ebrahimi, Hossein; Mohammadi, Eissa; Mohammadi, Mohammad Ali; Pirzadeh, Akbar; Mahmoudi, Hamzeh; Ansari, Ismail

    2015-03-01

    A deaf child creates a feeling of stigma in many hearing parents. Stigma in mothers can have a negative impact on a child's treatment and rehabilitation process. Therefore, this study was conducted to evaluate the extent of stigma in mothers with deaf children. This descriptive, cross-sectional study was conducted in 2013 among 90 mothers with deaf children. The data-collection instrument included the stigma scale in the mothers of children with disabilities. The reliability and validity of the instrument were confirmed through content validity and Cronbach's alpha coefficient (α=86%), respectively. Data were analyzed using SPSS-15 software. Results showed that most mothers suffer from stigma due to having a deaf child. The mean stigma score was 96.48 ±27.72. In total, 24.4% of mothers reported that they had received strange and mocking looks; 72.2% regarded child deafness as a sign of divine retribution; and 33.3% felt ashamed of their child's deafness. There was an inverse relationship between the mother's level of education and mean stigma scores (P<0.033). The stigma score was higher in mothers who were living independently of their relatives (P<0.029). The mean stigma score in mothers of children with a cochlear implant was lower than that of mothers of children with earphones (86.70 vs. 99.64), and this difference tended towards significance (P=0.057). This study showed that half of all mothers with deaf children were scorned and felt ashamed of having a deaf child in the family because of the stigma. The majority of mothers with deaf children felt stigmatized, and only their education and residency status affected this issue. The mothers of cochlear-implanted children perceived less stigma. Due to the various social and psychological problems caused by hearing impairment, it is necessary to consider the emotional health and psychological state of the mothers in addition to rehabilitation programs and standard services for the children themselves.

  15. Gênero e surdez / Gender and deafness

    Directory of Open Access Journals (Sweden)

    Madalena Klein

    2007-01-01

    Full Text Available Este artigo propõe-se discutir a temática da surdez, articulando-a com discussões referentes a gênero e sexualidade, tomando por referência autores da perspectiva dosEstudos Culturais em Educação e dos Estudos Surdos. A surdez e os surdos, assim como o gênero, são entendidos a partir da diferença cultural. No mercado de trabalho em geral, as surdas são discriminadas, porém são a maioria no professorado, o que é uma conseqüência da feminização do trabalho docente. A crescente presença feminina na liderança dos movimentos surdos pode estar relacionada a essa maioria de professoras, que carregam para os movimentos características da organização escolar. Analisamos dois artigos sobre o tema, além de um encontro sobre mulheres surdas ocorrido em Pelotas – RS, onde as participantes destacaram seu papel na luta política da associação dos surdos, enquanto aos homens cabe o papel de organizar as atividades de lazer e esportes. A luta pelos direitos das mulheres surdas vem crescendo no Brasil e há necessidade de haver mais estudos sobre essa temática.Abstract This paper discusses the topic of deafness, articulating it with discussions referring to gender and sexuality, based on authors from the perspectives of Cultural Studies in Education and Deaf Studies. Deafness and deaf people, as the gender issue, are understood through a cultural difference perspective. Deaf women are discriminated inthe workplace in general, but they are the majority in the teaching profession, a consequence of the feminization of the teaching work. The increasing female presence as leaders of deaf movements may be related to this greater rate of women as teachers, who carry the features of the school organization onto the movements. Two papers onthe topic were examined, as well as a meeting on deaf women occurring in Pelotas – RS, whose participants highlighted their role in the political struggle by the deaf people’s association, while men take

  16. Health Care Access Among Deaf People.

    Science.gov (United States)

    Kuenburg, Alexa; Fellinger, Paul; Fellinger, Johannes

    2016-01-01

    Access to health care without barriers is a clearly defined right of people with disabilities as stated by the UN Convention on the Rights of People with Disabilities. The present study reviews literature from 2000 to 2015 on access to health care for deaf people and reveals significant challenges in communication with health providers and gaps in global health knowledge for deaf people including those with even higher risk of marginalization. Examples of approaches to improve access to health care, such as providing powerful and visually accessible communication through the use of sign language, the implementation of important communication technologies, and cultural awareness trainings for health professionals are discussed. Programs that raise health knowledge in Deaf communities and models of primary health care centers for deaf people are also presented. Published documents can empower deaf people to realize their right to enjoy the highest attainable standard of health. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  17. Health promotion of families of deaf children

    Directory of Open Access Journals (Sweden)

    Mirna Albuquerque Frota

    2012-06-01

    Full Text Available Objective: To investigate the impact of hearing loss in the family dynamics of the deaf child; identify the family’s knowledge about deafness, understand how parents experience the diagnosis and treatment of child with hearing impairment. Methods: The study has aqualitative approach developed at the Center for Integrated Medical Care - NAMI, attached to the University of Fortaleza - UNIFOR located in Fortaleza - CE, Brazil. The participants were six mothers of children with hearing impairment. Data collection was carried outthrough participant observation and semi-structured interview. The Thematic Analysis of Bardin was used for processing the data. Results: After coding, some categories emerged from the discourse: Misinformation of Hearing Loss; impact of the discovery of hearingloss, caregivers and facilitators of the development of the deaf children. Conclusion: The birth of a deaf child alters the previous family balance, causing specific problems, such as the communication barrier, whose solution is related to how to handle the situation. Itis necessary to promote changes, emphasizing the involvement of caregivers and loved as facilitators of deaf child’s development. In Phonoaudiology, this attitude represents discovering new ways to identify the need for the subject, which requires strategies thatvalue their opinion, allowing the expression of expectations, perceptions, representations and feelings.

  18. Rehabilitation of deaf persons with cochlear implants

    International Nuclear Information System (INIS)

    Gstoettner, W.; Hamzavi, J.; Czerny, C.

    1997-01-01

    In the last decade, the rehabilitation of postlingually deaf adults and prelingually deaf children with cochlear implants has been established as a treatment of deafness. The technological development of the implant devices and improvement of the surgical technique have led to a considerable increase of hearing performance during the last years. The postlingually deaf adults are able to use the telephone and may be integrated in their original job. Prelingually deaf children can even visit normal schools after cochlear implantation and hearing rehabilitation training. In order to preoperatively establish the state of the cochlear, radiological diagnosis of the temporal bone is necessary. High resolution computerized tomography imaging of the temporal bone with coronar and axial 1 mm slices and MRI with thin slice technique (three dimensional, T2 weighted turbo-spinecho sequence with 0.7 mm slices) have proved to be valuable according to our experience. Furthermore a postoperative synoptical X-ray, in a modified Chausse III projection, offers good information about the position of the implant and insertion of the stimulating electrode into the cochlea. (orig.) [de

  19. Deaf murderers: clinical and forensic issues.

    Science.gov (United States)

    Vernon, M; Steinberg, A G; Montoya, L A

    1999-01-01

    Data are reported on 28 deaf individuals who were convicted, pled guilty, or have been charged and awaiting trial for murder. The unique forensic issues raised by these cases are discussed, and their clinical picture presented. A significant percentage of these deaf murderers and defendants had such severely limited communication skills in both English and American Sign Language that they lacked the linguistic ability to understand the charges against them and/or to participate in their own defense. As such, they were incompetent to stand trial, due not to mental illness or mental retardation, but to linguistic deficits. This form of incompetence poses a dilemma to the courts that remains unresolved. This same linguistic disability makes it impossible for some deaf suspects to be administered Miranda Warnings in a way comprehensible to them. This paper identifies the reasons for the communication problems many deaf persons face in court and offers remedial steps to help assure fair trials and police interrogations for deaf defendants. The roles and responsibilities of psychiatric and psychological experts in these cases are discussed. Data are provided on the etiology of the 28 individuals' hearing losses, psychiatric/psychological histories, IQs, communication characteristics, educational levels, and victim characteristics. Copyright 1999 John Wiley & Sons, Ltd.

  20. Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations

    DEFF Research Database (Denmark)

    Topsakal, Vedat; Hilgert, Nele; van Dinther, Joost

    2010-01-01

    Clinical and audiological examination was done in 2 Belgian families with autosomal dominant sensorineural hearing loss (SNHL) linked to DFNA22. Nineteen subjects in family 1 had mild to moderate SNHL starting in the third decade. The hearing loss was characterized by a flat audiogram affecting all......Hz. For all hitherto known DFNA22 families the audiological and clinical characteristics were correlated with the molecular data. This study describes the phenotype of 2 Belgian families with SNHL linked to DFNA22, both with a pathogenic change in the deafness gene MYO6. The phenotypes of all hitherto...

  1. The Attitudes of the Holy Land Institute for the Deaf-Salt, Jordan towards Deaf Socially and Educationally

    Science.gov (United States)

    Ziadat, Ayed H.; Atiyat, Fatima A.

    2018-01-01

    The study aimed to recognize the attitudes of the Holy Land Institute for the Deaf-Salt, Jordan towards Deaf Socially and Educationally in the academic year 2016-2017, which consists of instructional and vocational staff towards deaf socially and educationally according to some variables (gender, age, the level of education). The sample of the…

  2. Deaf Culture and Competing Discourses in a Residential School for the Deaf: "Can Do" versus "Can't Do"

    Science.gov (United States)

    O'Brien, Catherine A.; Placier, Peggy

    2015-01-01

    From an ethnographic case study of a state-funded residential school for the Deaf, the authors employed Critical Discourse Analysis to identify competing discourses in the talk of educators. These discourses are embedded in the historical oppression and labeling of deaf people as disabled and the development of Deaf culture as a counter-discourse.…

  3. A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness.

    Science.gov (United States)

    Burton, Sarah K; Withrow, Kara; Arnos, Kathleen S; Kalfoglou, Andrea L; Pandya, Arti

    2006-12-01

    Progress in identifying genes for deafness together with implementation of universal audiologic screening of newborns has provided the opportunity for more widespread use of molecular tests to detect genetic forms of hearing loss. Efforts to assess consumer attitudes toward these advances have lagged behind. Consumer focus groups were held to explore attitudes toward genetic advances and technologies for hearing loss, views about newborn hearing screening, and reactions to the idea of adding molecular screening for hearing loss at birth. Focus group discussions were recorded, transcribed and analyzed. Five focus groups with 44 participants including hearing parents of deaf children, deaf parents and young deaf adults were held. Focus group participants supported the use of genetic tests to identify the etiology of hearing loss but were concerned that genetic information might influence reproductive decisions. Molecular newborn screening was advocated by some; however, others expressed concern about its effectiveness. Documenting the attitudes of parents and other consumers toward genetic technologies establishes the framework for discussions on the appropriateness of molecular newborn screening for hearing loss and informs specialists about potential areas of public education necessary prior to the implementation of such screening.

  4. Prevalence of Dental Anomalies in Patients With Nonsyndromic Cleft Lip and/or Palate in a Brazilian Population.

    Science.gov (United States)

    Paranaiba, Lívia Máris Ribeiro; Coletta, Ricardo D; Swerts, Mário Sérgio Oliveira; Quintino, Rafaela Pacífico; de Barros, Letízia Monteiro; Martelli-Júnior, Hercílio

    2013-07-01

    Objective : Many studies have demonstrated a high frequency of dental anomalies in patients with cleft lip and/or palate. Because dental anomalies may complicate dental treatment, we investigated the prevalence of dental anomalies in a group of Brazilian patients with nonsyndromic cleft lip and/or palate. Design, Participants, Setting : Retrospective analysis was performed using clinical records of 296 patients aged between 12 and 30 years with repaired nonsyndromic cleft lip and/or palate without history of tooth extraction and orthodontic treatment. Associations between oral clefts and presence of dental anomalies outside the cleft area were investigated. Results : Dental anomalies were identified in 39.9% of the nonsyndromic cleft lip and/or palate patients, and tooth agenesis (47.5%), impacted tooth (13.1%), and microdontia (12.7%) were the most common anomalies. Cleft lip patients were less affected by dental anomalies compared with cleft palate or cleft lip and palate patients (p  =  .057). Specifically, patients with unilateral cleft lip and palate were significantly more affected by dental anomalies than those with bilateral cleft lip and palate (p  =  .00002), and individuals with unilateral complete cleft lip and palate (p  =  .002) and complete cleft palate (p  =  .01) were significantly more affected by tooth agenesis than other cleft types. Agenesis of the premolars (p  =  .043) and maxillary lateral incisors (p  =  .03) were significantly more frequent in patients with unilateral complete cleft lip and palate. Conclusions : The present study revealed a high frequency of dental anomalies in nonsyndromic cleft lip and/or palate patients and further demonstrated that patients with unilateral cleft lip and palate were frequently more affected by dental anomalies than those with bilateral cleft lip and palate. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning for

  5. Aetiological diagnosis of child deafness: CODEPEH recommendations.

    Science.gov (United States)

    Núñez-Batalla, Faustino; Jáudenes-Casaubón, Carmen; Sequí-Canet, Jose Miguel; Vivanco-Allende, Ana; Zubicaray-Ugarteche, Jose; Cabanillas-Farpón, Rubén

    Important progress in the fields of molecular genetics (principally) and diagnostic imaging, together with the lack of a consensus protocol for guiding the diagnostic process after confirming deafness by neonatal screening, have led to this new work document drafted by the Spanish Commission for the Early Detection of Child Deafness (Spanish acronym: CODEPEH). This 2015 Recommendations Document, which is based on the most recent scientific evidence, provides guidance to professionals to support them in making decisions regarding aetiological diagnosis. Such diagnosis should be performed without delay and without impeding early intervention. Early identification of the causes of deafness offers many advantages: it prevents unnecessary trouble for the families, reduces health system expenses caused by performing different tests, and provides prognostic information that may guide therapeutic actions. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

  6. Deafness, a Social Stigma: Physician Perspective.

    Science.gov (United States)

    Taneja, M K

    2014-12-01

    Hearing is an essential sensory sense of an individual for development of speech which is crucial for verbal communication and personality development. It is the second most common form of disability after loco motor disability in India. Disabling hearing loss is more than 40 dB hearing loss in better ear in a person more than 15 years of age and greater than 30 dB hearing loss in better hearing ear below 14 years of age. WHO estimated 360 million individuals in the world with disabling hearing loss, out of which 91 % are adults and only 9 % are children. Early and accurate identification of birth asphyxia, hyperbilirubinemia, auditory neuropathy Presbyacusis and avoiding noise pollution and discouraging use of mobile phone, tobacco chewing/smoking, in those who are prone to deafness, an intervention is a must to decrease deafness from our society. Deafness prevention can only be possible with mutual cooperation with dedication of different medical and non-medical personnel and also by helping the persons with deafness. We have to focus not only on the children but also on senior citizens as most alarming, up to 40 %, incidence of deafness is in senior citizens above the age of 75 years. Timely cure and preventive measures are essential for better socio-economic state of the country. By helping the persons with deafness, we will not only be doing a great service to the Nation but also to the society at large.

  7. Dementia and the Deaf community: knowledge and service access.

    Science.gov (United States)

    Ferguson-Coleman, Emma; Keady, John; Young, Alys

    2014-01-01

    This study concerns culturally Deaf people in the United Kingdom who use British Sign Language (BSL). Its objective was to explore how Deaf people's knowledge about dementia and access to services is mediated by their minoritised cultural-linguistic status. Twenty-six members of the Deaf community participated in one of three Deaf-led focus groups in BSL corresponding with the sample of: Deaf people over the age of 60 without dementia; Deaf people aged 18-60 working professional roles unconnected with dementia services; ordinary members of the Deaf community aged 18-60. Data were subjected to a thematic content analysis. Participants' concerns about their poor levels of knowledge and understanding of dementia were augmented by their awareness that without sustained social contact in BSL opportunities for earlier recognition of dementia would be lost. Although primary care services were identified as the first port of call for dementia-related concerns, there was widespread mistrust of their effectiveness because of failures in communication and cultural competence. Confirmed diagnosis of dementia was not viewed as a gateway to services and support because Deaf organisations, dementia-related organisations and mainstream adult services were perceived to be ill-equipped to respond to the needs of Deaf people with dementia. Locating problems of late diagnosis within the Deaf community's poor awareness and knowledge of dementia fails to recognise the structural barriers Deaf people face in timely access to services and accurate recognition of dementia-related changes.

  8. MRI Findings in 77 Children with Non-Syndromic Autistic Disorder

    Science.gov (United States)

    Boddaert, Nathalie; Zilbovicius, Mônica; Philipe, Anne; Robel, Laurence; Bourgeois, Marie; Barthélemy, Catherine; Seidenwurm, David; Meresse, Isabelle; Laurier, Laurence; Desguerre, Isabelle; Bahi-Buisson, Nadia; Brunelle, Francis; Munnich, Arnold; Samson, Yves; Mouren, Marie-Christine; Chabane, Nadia

    2009-01-01

    Background The clinical relevance of MR scanning in children with autism is still an open question and must be considered in light of the evolution of this technology. MRI was judged to be of insufficient value to be included in the standard clinical evaluation of autism according to the guidelines of the American Academy of Neurology and Child Neurology Society in 2000 [1]. However, this statement was based on results obtained from small samples of patients and, more importantly, included mostly insufficient MRI sequences. Our main objective was to evaluate the prevalence of brain abnormalities in a large group of children with a non-syndromic autistic disorder (AD) using T1, T2 and FLAIR MRI sequences. Methodology MRI inspection of 77 children and adolescents with non-syndromic AD (mean age 7.4±3.6) was performed. All met the DSM-IV and ADI –R criteria for autism. Based on recommended clinical and biological screenings, we excluded patients with infectious, metabolic or genetic diseases, seizures or any other neurological symptoms. Identical MRI inspections of 77 children (mean age 7.0±4.2) without AD, developmental or neurological disorders were also performed. All MRIs were acquired with a 1.5-T Signa GE (3-D T1-FSPGR, T2, FLAIR coronal and axial sequences). Two neuroradiologists independently inspected cortical and sub-cortical regions. MRIs were reported to be normal, abnormal or uninterpretable. Principal Findings MRIs were judged as uninterpretable in 10% (8/77) of the cases. In 48% of the children (33/69 patients), abnormalities were reported. Three predominant abnormalities were observed, including white matter signal abnormalities (19/69), major dilated Virchow–Robin spaces (12/69) and temporal lobe abnormalities (20/69). In all, 52% of the MRIs were interpreted as normal (36/69 patients). Conclusions An unexpectedly high rate of MRI abnormalities was found in the first large series of clinical MRI investigations in non-syndromic autism. These

  9. Monitoring the Achievement of Deaf Pupils in Sweden and Scotland

    DEFF Research Database (Denmark)

    Hendar, Nils Ola Ebbe; O'Neill, Rachel

    2016-01-01

    Over the past two decades there have been major developments in deaf education in many countries. Medical and technical advances have made it possible for more deaf children to hear and speak successfully. Most deaf pupils learn in ordinary classes in mainstream schools. In this article we explore...... patterns of achievements of deaf pupils to see if these reforms had improved attainment outcomes. International surveys such as PISA do not include deaf pupils. This article describes two independent large-scale surveys about deaf pupils in Sweden and Scotland. The similar results from both countries show...... that deaf children, after two decades of social reform and technical advances, still lag behind their hearing peers. The results also show how large-scale surveys can contribute to a greater understanding of educational outcomes in a small, vulnerable group and make it possible to continue to reform...

  10. Ethical Issues in Conducting Research With Deaf Populations

    Science.gov (United States)

    Schlehofer, Deirdre; Thew, Denise

    2013-01-01

    Deaf American Sign Language (ASL) users represent a small population at risk for marginalization from research and surveillance activities resulting from cultural, language, and ethical challenges. The Deaf community’s view of deafness as a cultural identity, rather than a disability, contradicts the medical community’s perception of deafness as a disease or deficiency in need of correction or elimination. These differences continue to have significant cultural and social implications within the Deaf community, resulting in mistrust of research opportunities. Two particularly contentious ethical topics for the Deaf community are the absence of community representation in genetic research and the lack of accessible informed consents and research materials. This article outlines a series of innovative strategies and solutions to these issues, including the importance of community representation and collaboration with researchers studying deaf populations. PMID:24134363

  11. RELATION OF DEAF PERSONS TOWARDS BILINGUALISM AS COMMUNICATION MODE

    Directory of Open Access Journals (Sweden)

    Naim Salkić

    2013-02-01

    Full Text Available Bilingualism of a deaf child implies concurrent cognition and usage of sign language, as community language and oral-voice language as language of greater community in which deaf persons live. Today, most authors consider that deaf persons should know both of these languages and that deaf persons need to be educated in both languages, because of their general communication and complete psycho-social development. Through research on sample of 80 deaf examinees, we affirmed the kind of relation that deaf persons have towards bilingualism, bilingual way of education and communication. The research results have shown that bilingualism and bilingual way of education and communication is acceptable to deaf persons and that there is no statistically significant difference between the sub-samples of examinees.

  12. [Megadolichobasilar anomaly causing acute deafness with vertigo].

    Science.gov (United States)

    Unkelbach, M H; Radeloff, A; Bink, A; Gstöttner, W; Ziemann, U

    2008-01-01

    Megadolichobasilar anomaly, a dilatant arteriopathy of the basilar artery attributable to chronic arterial hypertension, can cause cranial nerve compression syndromes of the cerebellopontine angle or infarcts of the vertebrobasilar circulation. In this paper, we report on a patient with known megadolichobasilar anomaly and a partially thrombosed fusiform aneurysm of the basilar artery, who presented with acute-onset vertigo and subsequent deafness due to thromboembolic occlusion of the labyrinthine artery. Because of the vascular origin of the patient's symptoms, his vertigo disappeared over time while the deafness persisted.

  13. [The daily life of deaf children].

    Science.gov (United States)

    Busquet, D

    1990-09-01

    The loss of hearing modifies in every respect the relations between a child and his environment and results in serious communication problems. An early diagnosis and a coherent management using all the techniques that facilitate communication can thoroughly alter the consequences of deafness. The therapeutic and educative planning must be done by a competent, multidisciplinary team working in close cooperation with the child's parents. The plan must be adjusted to each individual child and constantly readjusted, the target being the social integration of deaf children when they reach adulthood.

  14. Extended visual regions among the deaf

    International Nuclear Information System (INIS)

    Neville, H.; Bavelier, D.

    1996-01-01

    Whatever is the source of the deafness (genetic or acquired in the childhood) it leads to a partial re-arrangement of brain. It has been shown at animals that nerve cells of the auditive cortex acquire some characteristics of the visual nerve cells. At men, the NMR imaging confirms it: it seems that a part of the visual cortex appropriates some cortex zones which are normally intended to audition. It has been verified too that the deaf language solicit more the right hemisphere than the spoken language. (O.M.)

  15. The Development of Analogical Reasoning in Deaf Children and Their Parents' Communication Mode

    Science.gov (United States)

    Bandurski, Marcin; Galkowski, Tadeusz

    2004-01-01

    The purpose of this article is to analyze the results of a study of the development of analogical reasoning in deaf children coming from two different linguistic environments (deaf children of deaf parents--sign language, deaf children of hearing parents--spoken language) and in hearing children, as well as to compare two groups of deaf children…

  16. More on the Effects of Early Manual Communication on the Cognitive Development of Deaf Children.

    Science.gov (United States)

    Zwiebel, Abraham

    1987-01-01

    A study compared intelligence scores of three groups of Israeli deaf children--23 with deaf parents/deaf siblings and manual communication (DpDs), 76 with hearing parents/deaf siblings, and 144 with hearing parents and siblings. The DpDs children were superior to other deaf children and comparable to hearing children on most intelligence measures.…

  17. STATEMENT OF VIEWS RELATING TO THE EDUCATION OF THE DEAF IN THE UNITED STATES--1964.

    Science.gov (United States)

    FELLENDORF, GEORGE W.

    REPRESENTATIVE OF THE VIEWS OF THE ALEXANDER GRAHAM BELL ASSOCIATION FOR THE DEAF, THIS STATEMENT SETS FORTH THE PURPOSES OF THE BELL ASSOCIATION AND DISCUSSES THE FOLLOWING TOPICS ABOUT DEAF EDUCATION--(1) THEIR AMBITIONS FOR ALL DEAF CHILDREN, (2) A CRITIQUE ON THE EDUCATION OF THE DEAF IN THE UNITED STATES, (3) CONCERN FOR DEAF CHILDREN WHO ARE…

  18. Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3.

    Science.gov (United States)

    Kooshavar, Daniz; Tabatabaiefar, Mohammad Amin; Farrokhi, Effat; Abolhasani, Marziye; Noori-Daloii, Mohammad-Reza; Hashemzadeh-Chaleshtori, Morteza

    2013-02-01

    Autosomal recessive non-syndromic hearing loss (ARNSHL) can be caused by many genes. However, mutations in the GJB2 gene, which encodes the gap-junction (GJ) protein connexin (Cx) 26, constitute a considerable proportion differing among population. Between 10 and 42 percent of patients with recessive GJB2 mutations carry only one mutant allele. Mutations in GJB4, GJA1, and GJC3 encoding Cx30.3, Cx43, and Cx29, respectively, can lead to HL. Combination of different connexins in heteromeric and heterotypic GJ assemblies is possible. This study aims to determine whether variations in any of the genes GJB4, GJA1 or GJC3 can be the second mutant allele causing the disease in the digenic mode of inheritance in the studied GJB2 heterozygous cases. We examined 34 unrelated GJB2 heterozygous ARNSHL subjects from different geographic and ethnic areas in Iran, using polymerase chain reaction (PCR) followed by direct DNA sequencing to identify any sequence variations in these genes. Restriction fragment length polymorphism (RFLP) assays were performed on 400 normal hearing individuals. Sequence analysis of GJB4 showed five heterozygous variations including c.451C>A, c.219C>T, c.507C>G, c.155_158delTCTG and c.542C>T, with only the latter variation not being detected in any of control samples. There were three heterozygous variations including c.758C>T, c.717G>A and c.3*dupA in GJA1 in four cases. We found no variations in GJC3 gene sequence. Our data suggest that GJB4 c.542C>T variant and less likely some variations of GJB4 and GJA1, but not possibly GJC3, can be assigned to ARNSHL in GJB2 heterozygous mutation carriers providing clues of the digenic pattern. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  19. Face facts: Genes, environment, and clefts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, J.C. [Univ. of Iowa, Iowa City IA (United States)

    1995-08-01

    Cleft lip and/or palate provides an ideal, albeit complex, model for the study of human developmental anomalies. Clefting disorders show a mix of well-defined syndromic causes (many with single-gene or environmental etiologies) coupled with their more common presentation in the nonsyndromic form. This summary presents some insight into the genetic causes of, etiology of and animal models for cleft lip and/or palate. 79 refs.

  20. Widespread auditory deficits in tune deafness.

    Science.gov (United States)

    Jones, Jennifer L; Zalewski, Christopher; Brewer, Carmen; Lucker, Jay; Drayna, Dennis

    2009-02-01

    The goal of this study was to investigate auditory function in individuals with deficits in musical pitch perception. We hypothesized that such individuals have deficits in nonspeech areas of auditory processing. We screened 865 randomly selected individuals to identify those who scored poorly on the Distorted Tunes test (DTT), a measure of musical pitch recognition ability. Those who scored poorly were given a comprehensive audiologic examination, and those with hearing loss or other confounding audiologic factors were excluded from further testing. Thirty-five individuals with tune deafness constituted the experimental group. Thirty-four individuals with normal hearing and normal DTT scores, matched for age, gender, handedness, and education, and without overt or reported psychiatric disorders made up the normal control group. Individual and group performance for pure-tone frequency discrimination at 1000 Hz was determined by measuring the difference limen for frequency (DLF). Auditory processing abilities were assessed using tests of pitch pattern recognition, duration pattern recognition, and auditory gap detection. In addition, we evaluated both attention and short- and long-term memory as variables that might influence performance on our experimental measures. Differences between groups were evaluated statistically using Wilcoxon nonparametric tests and t-tests as appropriate. The DLF at 1000 Hz in the group with tune deafness was significantly larger than that of the normal control group. However, approximately one-third of participants with tune deafness had DLFs within the range of performance observed in the control group. Many individuals with tune deafness also displayed a high degree of variability in their intertrial frequency discrimination performance that could not be explained by deficits in memory or attention. Pitch and duration pattern discrimination and auditory gap-detection ability were significantly poorer in the group with tune deafness

  1. Nonsyndromic Synchronous Multifocal Central Giant Cell Granulomas of the Maxillofacial Region: Report of a Case.

    Directory of Open Access Journals (Sweden)

    Anita Munde

    2015-04-01

    Full Text Available Central giant cell granuloma (CGCG is a benign proliferation of fibroblasts and multinucleated giant cells that almost exclusively occurs in the jaws. It commonly occurs in young adults showing a female predilection in the anterior mandible. Multifocal CGCGs in maxillofacial region are very rare and suggestive of systemic diseases such as hyperparathyroidism, an inherited syndrome such as Noonan-like multiple giant cell lesion syndrome or other disorders. Only 10 cases of multifocal CGCGs in the maxillofacial region without any concomitant systemic disease have been reported in the English literature. Here, we report an unusual case of 36 year-old female presented with non-syndromic synchronous, multifocal CGCGs in the left posterior mandible and left posterior maxilla without any concomitant systemic disease. Relevant literature is reviewed and the incidence, clinical features, radiological features, differential diagnosis and management of CGCGs are discussed.

  2. Risk of leukemia in first degree relatives of patients with nonsyndromic cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Eduardo GONÇALVES

    2014-01-01

    Full Text Available The aim of this study was to determine the frequency of leukemia in parents of patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P. This case-control study evaluated first-degree family members of 358 patients with NSCL/P and 1,432 subjects without craniofacial alterations or syndromes. Statistical analysis was carried out using Fisher’s test. From the 358 subjects with NSCL/P, 3 first-degree parents had history of leukemia, while 2 out of 1,432 subjects from the unaffected group had a family history of leukemia. The frequency of positive family history of leukemia was not significantly increased in first-degree relatives of patients with NSCL/P.

  3. Multiple Supernumerary Teeth in a Non-Syndromic Patient: A Case Report

    Directory of Open Access Journals (Sweden)

    Majid Eshgh Pour

    2013-01-01

    Full Text Available Introduction: Multiple supernumerary teeth are a rare phenomenon. It occurs more often in patients with syndromes such as Gardner's syndrome, cleidocranial dysplasia and so on. This phenomenon in absence of such syndromes is rare. The purpose of this report was to introduce a case of non-syndromic multiple supernumerary impacted teeth.Case Report: A 29-year-old woman with no skeletal, metabolic, systemic and mental disorder was referred to oral and maxillofacial department of Mashhad dental school. In clinical evaluation, seven Permanent teeth were missing. In radiographic evaluation, there were a total of 15 impacted teeth which 7 of them were supernumerary.Conclusion: Missing or Excess of one or more teeth usually leads to occlusal and functional problems. In these cases, a complete clinical and radiographic examination accompanieal by a precise history should be performed to plan a suitable surgical-orthodontic-prosthetic treatment.

  4. The role of music in deaf culture: deaf students' perception of emotion in music.

    Science.gov (United States)

    Darrow, Alice-Ann

    2006-01-01

    Although emotional interpretation of music is an individual and variable experience, researchers have found that typical listeners are quite consistent in associating basic or primary emotions such as happiness, sadness, fear, and anger to musical compositions. It has been suggested that an individual with a sensorineural hearing loss, or any lesion in auditory perceptors in the brain may have trouble perceiving music emotionally. The purpose of the present study was to investigate whether students with a hearing loss who associate with the deaf culture, assign the same emotions to music as students without a hearing loss. Sixty-two elementary and junior high students at a Midwestern state school for the deaf and students at neighboring elementary and junior high schools served as participants. Participants at the state school for the deaf had hearing losses ranging from moderate to severe. Twelve film score excerpts, composed to depict the primary emotions-happiness, sadness, and fear, were used as the musical stimuli. Participants were asked to assign an emotion to each excerpt. Results indicated a significant difference between the Deaf and typical hearing participants' responses, with hearing participants' responses more in agreement with the composers' intent. No significant differences were found for age or gender. Analyses of the Deaf participants' responses indicate that timbre, texture, and rhythm are perhaps the musical elements most influential in transmitting emotion to persons with a hearing loss. Adaptive strategies are suggested for assisting children who are deaf in accessing the elements of music intended to portray emotion.

  5. Initial Treatment for Nonsyndromic Early-Life Epilepsy: An Unexpected Consensus.

    Science.gov (United States)

    Shellhaas, Renée A; Berg, Anne T; Grinspan, Zachary M; Wusthoff, Courtney J; Millichap, John J; Loddenkemper, Tobias; Coryell, Jason; Saneto, Russell P; Chu, Catherine J; Joshi, Sucheta M; Sullivan, Joseph E; Knupp, Kelly G; Kossoff, Eric H; Keator, Cynthia; Wirrell, Elaine C; Mytinger, John R; Valencia, Ignacio; Massey, Shavonne; Gaillard, William D

    2017-10-01

    There are no evidence-based guidelines on the preferred approach to treating early-life epilepsy. We examined initial therapy selection in a contemporary US cohort of children with newly diagnosed, nonsyndromic, early-life epilepsy (onset before age three years). Seventeen pediatric epilepsy centers participated in a prospective cohort study of children with newly diagnosed epilepsy with onset under 36 months of age. Details regarding demographics, seizure types, and initial medication selections were obtained from medical records. About half of the 495 enrolled children with new-onset, nonsyndromic epilepsy were less than 12 months old at the time of diagnosis (n = 263, 53%) and about half (n = 260, 52%) had epilepsy with focal features. Of 464 who were treated with monotherapy, 95% received one of five drugs: levetiracetam (n = 291, 63%), oxcarbazepine (n = 67, 14%), phenobarbital (n = 57, 12%), topiramate (n = 16, 3.4%), and zonisamide (n = 13, 2.8%). Phenobarbital was prescribed first for 50 of 163 (31%) infants less than six months old versus seven of 300 (2.3%) of children six months or older (P epilepsy presentation (focal, generalized, mixed/uncertain). Between the first and second treatment choices, 367 (74%) of children received levetiracetam within the first year after diagnosis. Without any specific effort, the pediatric epilepsy community has developed an unexpectedly consistent approach to initial treatment selection for early-life epilepsy. This suggests that a standard practice is emerging and could be utilized as a widely acceptable basis of comparison in future drug studies. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

    Science.gov (United States)

    Nguyen, Thanh-Minh T; Hull, Sarah; Roepman, Ronald; van den Born, L Ingeborgh; Oud, Machteld M; de Vrieze, Erik; Hetterschijt, Lisette; Letteboer, Stef J F; van Beersum, Sylvia E C; Blokland, Ellen A; Yntema, Helger G; Cremers, Frans P M; van der Zwaag, Paul A; Arno, Gavin; van Wijk, Erwin; Webster, Andrew R; Haer-Wigman, Lonneke

    2017-09-01

    Recent findings suggesting that Abelson helper integration site 1 ( AHI1 ) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1 variants cause non-syndromic retinitis pigmentosa (RP). Exome sequencing was performed in three probands with RP. The effects of the identified missense variants in AHI1 were predicted by three-dimensional structure homology modelling. Ciliary parameters were evaluated in patient's fibroblasts, and recombinant mutant proteins were expressed in ciliated retinal pigmented epithelium cells. In the three patients with RP, three sets of compound heterozygous variants were detected in AHI1 (c.2174G>A; p.Trp725* and c.2258A>T; p.Asp753Val, c.660delC; p.Ser221Glnfs*10 and c.2090C>T; p.Pro697Leu, c.2087A>G; p.His696Arg and c.2429C>T; p.Pro810Leu). All four missense variants were present in the conserved WD40 domain of Jouberin, the ciliary protein encoded by AHI1 , with variable predicted implications for the domain structure. No significant changes in the percentage of ciliated cells, nor in cilium length or intraflagellar transport were detected. However, expression of mutant recombinant Jouberin in ciliated cells showed a significantly decreased enrichment at the ciliary base. This report confirms that mutations in AHI1 can underlie autosomal recessive RP. Moreover, it structurally and functionally validates the effect of the RP-associated AHI1 variants on protein function, thus proposing a new genotype-phenotype correlation for AHI1 mutation associated retinal ciliopathies. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  7. A case of antenatal Bartter syndrome with sensorineural deafness.

    Science.gov (United States)

    Lee, Hyun Seung; Cheong, Hae Il; Ki, Chang-Seok

    2010-10-01

    Bartter syndrome type IV, also known as Bartter syndrome with sensorineural deafness (BSND), is caused by loss-of-function mutations in the BSND gene, which encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. Patients with BS IV have a highly variable clinical phenotype. This report concerns a Korean male patient with antenatal Bartter syndrome due to a homozygous BSND p.G47R mutation, who presented with severe perinatal symptoms followed by a relatively benign course with preserved renal function after early infancy. In addition, the clinical features and the laboratory data of the patient were compared with those of previously reported patients with the same mutation.

  8. Genetics Home Reference: palmoplantar keratoderma with deafness

    Science.gov (United States)

    ... Melegh B. Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation. Curr Med Chem. 2008;15(13):1257-62. Review. Citation on PubMed Xu J, Nicholson BJ. The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys ...

  9. Visual perceptual load induces inattentional deafness.

    Science.gov (United States)

    Macdonald, James S P; Lavie, Nilli

    2011-08-01

    In this article, we establish a new phenomenon of "inattentional deafness" and highlight the level of load on visual attention as a critical determinant of this phenomenon. In three experiments, we modified an inattentional blindness paradigm to assess inattentional deafness. Participants made either a low- or high-load visual discrimination concerning a cross shape (respectively, a discrimination of line color or of line length with a subtle length difference). A brief pure tone was presented simultaneously with the visual task display on a final trial. Failures to notice the presence of this tone (i.e., inattentional deafness) reached a rate of 79% in the high-visual-load condition, significantly more than in the low-load condition. These findings establish the phenomenon of inattentional deafness under visual load, thereby extending the load theory of attention (e.g., Lavie, Journal of Experimental Psychology. Human Perception and Performance, 25, 596-616, 1995) to address the cross-modal effects of visual perceptual load.

  10. Alexander Graham Bell: Teacher of the Deaf.

    Science.gov (United States)

    Bruce, Robert V.

    The lecture on Alexander Graham Bell by Dr. Robert V. Bruce, the author of a biography of Bell, focuses on Bell's association with the Clarke School for the Deaf in Massachusetts. Noted are Bell's employment by the school at 25 years of age and the preceding period during which Bell taught elocution at a boys' school in Scotland and used his…

  11. ATM: Restructing Learning for Deaf Students.

    Science.gov (United States)

    Keefe, Barbara; Stockford, David

    Governor Baxter School for the Deaf is one of six Maine pilot sites chosen by NYNEX to showcase asynchronous transfer mode (ATM) technology. ATM is a network connection that allows high bandwidth transmission of data, voice, and video. Its high speed capability allows for high quality two-way full-motion video, which is especially beneficial to a…

  12. Health Care Access among Deaf People

    Science.gov (United States)

    Kuenburg, Alexa; Fellinger, Paul; Fellinger, Johannes

    2016-01-01

    Access to health care without barriers is a clearly defined right of people with disabilities as stated by the UN Convention on the Rights of People with Disabilities. The present study reviews literature from 2000 to 2015 on access to health care for deaf people and reveals significant challenges in communication with health providers and gaps in…

  13. Memory and Metamemory in Deaf Students.

    Science.gov (United States)

    Fung Tsui, Hing; Rodda, Michael

    1990-01-01

    Memory and metamemory abilities of 24 severely to profoundly deaf students between the ages of 9 and 20 years old were studied. Results did not suggest spatial bias in encoding. Semantic knowledge was correlated with metamemory and free recall, and rehearsal mechanisms correlated with temporal position recall and paired-associate nonprototypic…

  14. Developmental Social Cognitive Neuroscience: Insights from Deafness

    Science.gov (United States)

    Corina, David; Singleton, Jenny

    2009-01-01

    The condition of deafness presents a developmental context that provides insight into the biological, cultural, and linguistic factors underlying the development of neural systems that impact social cognition. Studies of visual attention, behavioral regulation, language development, and face and human action perception are discussed. Visually…

  15. International Deaf Education Teacher-Training Projects.

    Science.gov (United States)

    Moulton, Robert; Chinn, Kathleen

    2002-01-01

    This article discusses the need and challenges of developing nations regarding audiological and educational services for children who are deaf or hard-of-hearing. Stellar international programs are described. Availability and use of current computer technology is discussed and suggestions are made for international projects in audiology and deaf…

  16. Antenatal Bartter's syndrome with sensorineural deafness

    OpenAIRE

    Bhamkar, R. P.; Gajendragadkar, A.

    2009-01-01

    Bartter's syndrome is a group of inherited, salt-losing tubulopathies presenting as metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. We report here the first case of a neonate with bilateral, sensorineural deafness, a variant of antenatal Bartter's syndrome from an Indian community.

  17. Deaf Children's Bimodal Bilingualism and Education

    Science.gov (United States)

    Swanwick, Ruth

    2016-01-01

    This paper provides an overview of the research into deaf children's bilingualism and bilingual education through a synthesis of studies published over the last 15 years. This review brings together the linguistic and pedagogical work on bimodal bilingualism to inform educational practice. The first section of the review provides a synthesis of…

  18. Molecular Etiology of Hereditary Single-Side Deafness

    Science.gov (United States)

    Kim, Shin Hye; Kim, Ah Reum; Choi, Hyun Seok; Kim, Min Young; Chun, Eun Hi; Oh, Seung-Ha; Choi, Byung Yoon

    2015-01-01

    Abstract Unilateral sensorineural hearing loss (USNHL)/single-side deafness (SSD) is a frequently encountered disability in children. The etiology of a substantial portion of USNHL/SSD still remains unknown, and genetic causes have not been clearly elucidated. In this study, the authors evaluated the heritability of USNHL/SSD. The authors sequentially recruited 50 unrelated children with SSD. For an etiologic diagnosis, we performed a rigorous review on the phenotypes of family members of all children and conducted, if necessary, molecular genetic tests including targeted exome sequencing of 129 deafness genes. Among the 50 SSD children cohort, the authors identify 4 (8%) unrelated SSD probands from 4 families (SH136, SB173, SB177, and SB199) with another hearing impaired family members. Notably, all 4 probands in our cohort with a familial history of SSD also have pigmentary abnormalities such as brown freckles or premature gray hair within first degree relatives, which may indicate that genes whose products are involved with pigmentary disorder could be candidates for heritable SSD. Indeed, SH136 and SB199 turned out to segregate a mutation in MITF and PAX3, respectively, leading to a molecular diagnosis of Waardenburg syndrome (WS). We report, for the first time in the literature, a significant heritability of pediatric SSD. There is a strong association between the heritability of USNHL/SSD and the pigmentary abnormality, shedding a new light on the understanding of the molecular basis of heritable USNHL/SSD. In case of children with congenital SSD, it would be mandatory to rigorously screen pigmentary abnormalities. WS should also be included in the differential diagnosis of children with USNHL/SSD, especially in a familial form. PMID:26512583

  19. Complex word reading in Dutch deaf children and adults.

    Science.gov (United States)

    van Hoogmoed, Anne H; Knoors, Harry; Schreuder, Robert; Verhoeven, Ludo

    2013-03-01

    Children who are deaf are often delayed in reading comprehension. This delay could be due to problems in morphological processing during word reading. In this study, we investigated whether 6th grade deaf children and adults are delayed in comparison to their hearing peers in reading complex derivational words and compounds compared to monomorphemic words. The results show that deaf children are delayed in reading both derivational words and compounds as compared to hearing children, while both deaf and hearing adults performed equally well on a lexical decision task. However, deaf adults generally showed slower reaction times than hearing adults. For both deaf and hearing children, derivational words were more difficult than compounds, as reflected in hearing children's slower reaction times and in deaf children's lower accuracy scores. This finding likely reflects deaf children's lack of familiarity with the meaning of the bound morphemes attached to the stems in derivational words. Therefore, it might be beneficial to teach deaf children the meaning of bound morphemes and to train them to use morphology in word reading. Moreover, these findings imply that it is important to focus on both monomorphemic and polymorphemic words when assessing word reading ability in deaf children. Copyright © 2012 Elsevier Ltd. All rights reserved.

  20. Neural networks mediating sentence reading in the deaf

    Directory of Open Access Journals (Sweden)

    Elizabeth Ann Hirshorn

    2014-06-01

    Full Text Available The present work addresses the neural bases of sentence reading in deaf populations. To better understand the relative role of deafness and English knowledge in shaping the neural networks that mediate sentence reading, three populations with different degrees of English knowledge and depth of hearing loss were included – deaf signers, oral deaf and hearing individuals. The three groups were matched for reading comprehension and scanned while reading sentences. A similar neural network of left perisylvian areas was observed, supporting the view of a shared network of areas for reading despite differences in hearing and English knowledge. However, differences were observed, in particular in the auditory cortex, with deaf signers and oral deaf showing greatest bilateral superior temporal gyrus (STG recruitment as compared to hearing individuals. Importantly, within deaf individuals, the same STG area in the left hemisphere showed greater recruitment as hearing loss increased. To further understand the functional role of such auditory cortex re-organization after deafness, connectivity analyses were performed from the STG regions identified above. Connectivity from the left STG toward areas typically associated with semantic processing (BA45 and thalami was greater in deaf signers and in oral deaf as compared to hearing. In contrast, connectivity from left STG toward areas identified with speech-based processing was greater in hearing and in oral deaf as compared to deaf signers. These results support the growing literature indicating recruitment of auditory areas after congenital deafness for visually-mediated language functions, and establish that both auditory deprivation and language experience shape its functional reorganization. Implications for differential reliance on semantic vs. phonological pathways during reading in the three groups is discussed.

  1. Sexual health behaviors of Deaf American Sign Language (ASL) users.

    Science.gov (United States)

    Heiman, Erica; Haynes, Sharon; McKee, Michael

    2015-10-01

    Little is known about the sexual health behaviors of Deaf American Sign Language (ASL) users. We sought to characterize the self-reported sexual behaviors of Deaf individuals. Responses from 282 Deaf participants aged 18-64 from the greater Rochester, NY area who participated in the 2008 Deaf Health were analyzed. These data were compared with weighted data from a general population comparison group (N = 1890). We looked at four sexual health-related outcomes: abstinence within the past year; number of sexual partners within the last year; condom use at last intercourse; and ever tested for HIV. We performed descriptive analyses, including stratification by gender, age, income, marital status, and educational level. Deaf respondents were more likely than the general population respondents to self-report two or more sexual partners in the past year (30.9% vs 10.1%) but self-reported higher condom use at last intercourse (28.0% vs 19.8%). HIV testing rates were similar between groups (47.5% vs 49.4%) but lower for certain Deaf groups: Deaf women (46.0% vs 58.1%), lower-income Deaf (44.4% vs 69.7%) and among less educated Deaf (31.3% vs 57.7%) than among respondents from corresponding general population groups. Deaf respondents self-reported higher numbers of sexual partners over the past year compared to the general population. Condom use was higher among Deaf participants. HIV was similar between groups, though HIV testing was significantly lower among lower income, less well-educated, and female Deaf respondents. Deaf individuals have a sexual health risk profile that is distinct from that of the general population. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Sexual Health Behaviors of Deaf American Sign Language (ASL) Users

    Science.gov (United States)

    Heiman, Erica; Haynes, Sharon; McKee, Michael

    2015-01-01

    Background Little is known about the sexual health behaviors of Deaf American Sign Language (ASL) users. Objective We sought to characterize the self-reported sexual behaviors of Deaf individuals. Methods Responses from 282 Deaf participants aged 18–64 from the greater Rochester, NY area who participated in the 2008 Deaf Health were analyzed. These data were compared with weighted data from a general population comparison group (N=1890). We looked at four sexual health-related outcomes: abstinence within the past year; number of sexual partners within the last year; condom use at last intercourse; and ever tested for HIV. We performed descriptive analyses, including stratification by gender, age, income, marital status, and educational level. Results Deaf respondents were more likely than the general population respondents to self-report two or more sexual partners in the past year (30.9% vs 10.1%) but self-reported higher condom use at last intercourse (28.0% vs 19.8%). HIV testing rates were similar between groups (47.5% vs 49.4%) but lower for certain Deaf groups: Deaf women (46.0% vs. 58.1%), lower-income Deaf (44.4% vs. 69.7%) and among less educated Deaf (31.3% vs. 57.7%) than among respondents from corresponding general population groups. Conclusion Deaf respondents self-reported higher numbers of sexual partners over the past year compared to the general population. Condom use was higher among Deaf participants. HIV was similar between groups, though HIV testing was significantly lower among lower-income, less well-educated, and female Deaf respondents. Deaf individuals have a sexual health risk profile that is distinct from that of the general population. PMID:26242551

  3. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

    Science.gov (United States)

    Lüdecke, H.-J.; Pettersson, M.; Albrecht, B.; Bernier, R. A.; Cremer, K.; Eichler, E. E.; Falkenstein, D.; Gerdts, J.; Jansen, S.; Kuechler, A.; Kvarnung, M.; Lindstrand, A.; Nilsson, D.; Nordgren, A.; Pfundt, R.; Spruijt, L.; Surowy, H. M.; de Vries, B. B. A.; Wieland, T.; Engels, H.; Strom, T. M.; Kleefstra, T.; Wieczorek, D.

    2018-01-01

    The ubiquitin pathway is an enzymatic cascade including activating E1, conjugating E2, and ligating E3 enzymes, which governs protein degradation and sorting. It is crucial for many physiological processes. Compromised function of members of the ubiquitin pathway leads to a wide range of human diseases, such as cancer, neurodegenerative diseases, and neurodevelopmental disorders. Mutations in the thyroid hormone receptor interactor 12 (TRIP12) gene (OMIM 604506), which encodes an E3 ligase in the ubiquitin pathway, have been associated with autism spectrum disorder (ASD). In addition to autistic features, TRIP12 mutation carriers showed intellectual disability (ID). More recently, TRIP12 was postulated as a novel candidate gene for intellectual disability in a meta-analysis of published ID cohorts. However, detailed clinical information characterizing the phenotype of these individuals was not provided. In this study, we present seven novel individuals with private TRIP12 mutations including two splice site mutations, one nonsense mutation, three missense mutations, and one translocation case with a breakpoint in intron 1 of the TRIP12 gene and clinically review four previously published cases. The TRIP12 mutation-positive individuals presented with mild to moderate ID (10/11) or learning disability [intelligence quotient (IQ) 76 in one individual], ASD (8/11) and some of them with unspecific craniofacial dysmorphism and other anomalies. In this study, we provide detailed clinical information of 11 TRIP12 mutation-positive individuals and thereby expand the clinical spectrum of the TRIP12 gene in non-syndromic intellectual disability with or without ASD. PMID:27848077

  4. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.

    NARCIS (Netherlands)

    Kalscheuer, V.M.M.; Freude, K.; Musante, L.; Jensen, L.R.; Yntema, H.G.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.C.; Shoichet, S.; Hagens, O.; Tao, J.; Bokhoven, J.H.L.M. van; Turner, G.; Chelly, J.; Moraine, C.; Fryns, J.P.; Nuber, U.; Hoeltzenbein, M.; Scharff, C.; Scherthan, H.; Lenzner, S.; Hamel, B.C.J.; Schweiger, S.; Ropers, H.H.

    2003-01-01

    We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously

  5. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

    DEFF Research Database (Denmark)

    Kalscheuer, Vera M; Freude, Kristine; Musante, Luciana

    2003-01-01

    We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previou...

  6. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

    NARCIS (Netherlands)

    Kalscheuer, VM; Freude, K; Musante, L; Jensen, LR; Yntema, HG; Gecz, J; Sefiani, A; Hoffmann, K; Moser, B; Haas, S; Gurok, U; Haesler, S; Aranda, B; Nshedjan, A; Tzschach, A; Hartmann, N; Roloff, TC; Shoichet, S; Hagens, O; Tao, J; van Bokhoven, H; Turner, G; Chelly, J; Moraine, C; Fryns, JP; Nuber, U; Hoeltzenbein, M; Scharff, C; Scherthan, H; Lenzner, S; Hamel, BCJ; Schweiger, S; Ropers, Hans-Hilger

    2003-01-01

    We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously

  7. Maternal Transmission Effect of a PDGF-C SNP on Nonsyndromic Cleft Lip with or without Palate from a Chinese Population

    Science.gov (United States)

    Wang, Xingang; Yin, Ningbei; Song, Tao; Li, Haidong; Zhang, Feng; Zhang, Yongbiao; Ye, Zhenqing; Yu, Jun; Wang, Duen-Mei; Zhao, Zhenmin

    2012-01-01

    Cleft lip with or without palate (CL/P) is a common congenital anomaly with a high birth prevalence in China. Based on a previous linkage signal of nonsyndromic CL/P (NSCL/P) on the chromosomal region 4q31–q32 from the Chinese populations, we screened the 4q31–q32 region for susceptibility genes in 214 trios of Han Chinese. PDGF-C, an important developmental factor, resides in the region and has been implicated in NSCL/P. However, in our family-based association test (transmission disequilibrium test; TDT), we could not conclude an association between PDGF-C and NSCL/P as previously suggested. Instead, we found strong evidence for parent-of-origin effect at a PDGF-C SNP, rs17035464, by a likelihood ratio test (unadjusted p-value = 0.0018; Im = 2.46). The location of rs17035464 is 13 kb downstream of a previously reported, NSCL/P-associated SNP, rs28999109. Furthermore, a patient from our sample trios was observed with a maternal segmental uniparental isodisomy (UPD) in a region containing rs17035464. Our findings support the involvement of PDGF-C in the development of oral clefts; moreover, the UPD case report contributes to the collective knowledge of rare variants in the human genome. PMID:23029525

  8. Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland

    LENUS (Irish Health Repository)

    Minguzzi, Stefano

    2012-04-20

    AbstractBackgroundPolymorphisms within the MTHFD1L gene were previously associated with risk of neural tube defects in Ireland. We sought to test the most significant MTHFD1L polymorphisms for an association with risk of cleft in an Irish cohort. This required the development of a new melting curve assay to genotype the technically challenging MTHFD1L triallelic deletion\\/insertion polymorphism (rs3832406).MethodsMelting curve analysis was used to genotype the MTHFD1L triallelic deletion\\/insertion polymorphism (rs3832406) and a Single Nucleotide Polymorphism rs17080476 in an Irish cohort consisting of 981 Irish case-parent trios and 1,008 controls. Tests for association with nonsyndromic cleft lip with or without cleft palate and cleft palate included case\\/control analysis, mother\\/control analysis and Transmission Disequilibrium Tests of case-parent trios.ResultsA successful melting curve genotyping assay was developed for the deletion\\/insertion polymorphism (rs3832406). The TDT analysis initially showed that the rs3832406 polymorphism was associated with isolated cleft lip with or without cleft palate. However, corrected p-values indicated that this association was not significant.ConclusionsMelting Curve Analysis can be employed to successfully genotype challenging polymorphisms such as the MTHFD1L triallelic deletion\\/insertion polymorphism (DIP) reported here (rs3832406) and is a viable alternative to capillary electrophoresis. Corrected p-values indicate no association between MTHFD1L and risk of cleft in an Irish cohort.

  9. Deaf Mothers and Breastfeeding: Do Unique Features of Deaf Culture and Language Support Breastfeeding Success?

    Science.gov (United States)

    Chin, Nancy P.; Cuculick, Jess; Starr, Matthew; Panko, Tiffany; Widanka, Holly; Dozier, Ann

    2014-01-01

    Background Deaf mothers who use American Sign Language (ASL) consider themselves a linguistic minority group, with specific cultural practices. Rarely has this group been engaged in infant-feeding research. Objectives To understand how ASL-using Deaf mothers learn about infant feeding and to identify their breastfeeding challenges. Methods Using a community-based participatory research (CBPR) approach we conducted four focus groups with Deaf mothers who had at least one child 0–5 years. A script was developed using a social ecological model (SEM) to capture multiple levels of influence. All groups were conducted in ASL, filmed, and transcribed into English. Deaf and hearing researchers analyzed data by coding themes within each SEM level. Results Fifteen mothers participated. All had initiated breastfeeding with their most recent child. Breastfeeding duration for eight of the mothers was three weeks to 12 months. Seven of the mothers were still breastfeeding, the longest for 19 months. Those mothers who breastfed longer described a supportive social environment and the ability to surmount challenges. Participants described characteristics of Deaf culture such as direct communication, sharing information, use of technologies, language access through interpreters and ASL-using providers, and strong self-advocacy skills. Finally, mothers used the sign ‘struggle’ to describe their breastfeeding experience. The sign implies a sustained effort over time which leads to success. Conclusions In a setting with a large population of Deaf women and ASL-using providers, we identified several aspects of Deaf culture and language which support BF mothers across institutional, community, and interpersonal levels of the SEM. PMID:23492762

  10. Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate.

    Science.gov (United States)

    Dentino, K M; Valstar, A; Padwa, B L

    2016-06-01

    The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral). Four patients (19%) had a palatal fistula after palatoplasty. Twelve of 22 patients aged >5 years (55%) had midfacial retrusion and two (9%) required a pharyngeal flap for velopharyngeal insufficiency (VPI). Fisher's exact test demonstrated a higher frequency of complete labial clefting (P=0.004), CLP (P=0.009), midfacial retrusion (P=0.0009), and postoperative palatal fistula (P=0.03) in HFM compared to non-syndromic CL±P. There was no difference in VPI prevalence. This study revealed that patients with HFM and CL±P have more severe forms of orofacial clefting than patients with non-syndromic CL±P. Patients with HFM and CL±P have more severe midfacial retrusion and a higher palatal fistula rate compared to patients with non-syndromic CL±P. Copyright © 2015 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  11. Family therapy in treatment of the deaf: a case report.

    Science.gov (United States)

    Shapiro, R J; Harris, R I

    1976-03-01

    Deaf patients with psychological problems have developmental handicaps and clinical characteristics that reduce the effectiveness of traditional modes of psychotherapy. Attempts have been made to utilize individual and group therapy, but family therapy has been largely overlooked as a method of alleviating problems of the deaf. Clinical and research writings provide us with rich insights into the family dynamics of the deaf. These data suggest to the authors that the problems of deaf individuals are largely related to family problems, and therefore merit a family orientation as the focus for treatment. This paper describes an attempt to apply family therapy with a range of deaf patients over a period of two years. From a review of their work, the authors conclude that family therapy can be effective, particularly in the treatment of deaf adolescents and children.

  12. Representations of deaf characters in children's picture books.

    Science.gov (United States)

    Golos, Debbie B; Moses, Annie M

    2011-01-01

    Picture books can influence how children perceive people of different backgrounds, including people with disabilities whose cultures differ from their own. Researchers have examined the portrayal of multicultural characters with disabilities in children's literature. However, few have specifically considered the portrayal of deaf characters, despite increased inclusion of deaf characters in children's literature over the past two decades. The present study analyzed the portrayal of deaf characters in picture books for children ages 4-8 years. A content analysis of 20 children's picture books was conducted in which the books were analyzed for messages linked to pathological and cultural categories. Results indicated that these books did not portray Deaf characters from a cultural perspective but, rather, highlighted aspects of deafness as a medical condition, one that requires fixing and that perpetuates stereotypes of deafness as a disability.

  13. Factors impacting participation of European elite deaf athletes in sport.

    Science.gov (United States)

    Kurková, Petra; Válková, Hana; Scheetz, Nanci

    2011-03-01

    This study examine 53 European elite deaf athletes for their family's hearing status, use of hearing aids, communication preference, education in integrated or segregated settings, family members' encouragement for participation in sports, coach preference (hearing or deaf), and conditions for competitive events with deaf or hearing athletes. These data were gathered through semi-structured interviews administered in the athlete's native language. Deaf athletes reported that when given the opportunity to compete with hearing athletes, it enhanced their opportunity for competition. Participating in sports with hearing athletes played an important role in the integration of deaf athletes into mainstream society. If adaptations to communication can be made in these integrated settings, the ability of deaf athletes to participate in such settings will increase.

  14. Understanding Harry Potter: parallels to the deaf world.

    Science.gov (United States)

    Czubek, Todd A; Greenwald, Janey

    2005-01-01

    Every so often there are stories that take the world by storm and make such an impact that they become part of our everyday world. These stories, characters, and themes become established elements of cultural literacy. This is exactly what has happened with J. K. Rowling's Harry Potter series. Harry and his cohort of wizards, witches, and their adventures have become an indispensable part of popular literature and popular culture. We have developed an innovative way to ensure that Deaf children, their families, and anyone studying literature (Deaf or general) gain a deeper understanding of this phenomenon. In fact, we go further by demonstrating how using a Deaf Lens provides the greatest insight into the fascinating world of Harry Potter. Utilizing a Deaf Studies Template and a Deaf Lens, we capitalize on the experiences of Deaf people everywhere while celebrating the valuable role American Sign Language has in academic programming.

  15. Focal segmental glomerulosclerosis associated with maternally inherited diabetes and deafness: Clinical pathological analysis

    Directory of Open Access Journals (Sweden)

    Xue-Ying Cao

    2013-01-01

    Full Text Available Maternally inherited diabetes and deafness (MIDD, which is caused by an A to G substitution at position 3243 (m.3243A>G in the transfer ribonucleic acid leucine gene, is characterized by diabetes and hearing loss. Patients with MIDD frequently have renal disease, which may precede the diagnosis of either diabetes or deafness or may be the sole manifestation of the m.3243A>G mutation. Recently, progressive renal failure was reported in adults, and a number of childhood cases of focal segmental glomerulosclerosis (FSGS of MIDD have been reported. However, little is known about the glomerular lesions in FSGS in MIDD. In the present study, we reported two cases of FSGS associated with MIDD and studied the clinical features of the proband and her mother.

  16. Vascular defects and sensorineural deafness in a mouse model of Norrie disease.

    Science.gov (United States)

    Rehm, Heidi L; Zhang, Duan-Sun; Brown, M Christian; Burgess, Barbara; Halpin, Chris; Berger, Wolfgang; Morton, Cynthia C; Corey, David P; Chen, Zheng-Yi

    2002-06-01

    Norrie disease is an X-linked recessive syndrome of blindness, deafness, and mental retardation. A knock-out mouse model with an Ndp gene disruption was studied. We examined the hearing phenotype, including audiological, histological, and vascular evaluations. As is seen in humans, the mice had progressive hearing loss leading to profound deafness. The primary lesion was localized to the stria vascularis, which houses the main vasculature of the cochlea. Fluorescent dyes showed an abnormal vasculature in this region and eventual loss of two-thirds of the vessels. We propose that one of the principal functions of norrin in the ear is to regulate the interaction of the cochlea with its vasculature.

  17. Deaf/LGBTQ Intersectional Invisibility in Schools: The Lived Experiences of Deaf Lesbian Students of Color at a School for the Deaf

    Science.gov (United States)

    Dunne, Courtney M.

    2013-01-01

    Historically, American society has had conflicting views on the nature and nurture of Deaf people and Lesbian, Gay, Bisexual, Transgender, Queer (LGBTQ) people. In the context of majority cultures and societies in history, the reality of Deaf and LGBTQ people's lives has often been summarized in general terms such as invisibility and oppression.…

  18. Comparative study of verbal originality in deaf and hearing children.

    Science.gov (United States)

    Johnson, R A; Khatena, J

    1975-04-01

    Verbal originality scores were obtained from Onomatopoeia and Images, Form 1B, given to 181 deaf and 236 hearing Ss aged 10 to 19 yr. The hearing Ss scored significantly higher than the deaf Ss. Significant main effects for age were found but not for sex. The only significant interaction was found for hearing status and age. Deaf Ss became more productive as age increased, while performance of hearing Ss relative to age fluctuated.

  19. Calendar systems and communication of deaf-blind children

    OpenAIRE

    Jablan Branka; Stanimirov Ksenija

    2012-01-01

    The aim of this paper is to explain the calendar systems and their role in teaching deaf-blind children. Deaf-blind persons belong to a group of multiple disabled persons. This disability should not be observed as a simple composite of visual and hearing impairments, but as a combination of sensory impairments that require special assistance in the development, communication and training for independent living. In our environment, deaf-blind children are being educated in schools for children...

  20. Association of common variants in PAH and LAT1 with non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Polish population.

    Science.gov (United States)

    Hozyasz, Kamil K; Mostowska, Adrianna; Wójcicki, Piotr; Lasota, Agnieszka; Wołkowicz, Anna; Dunin-Wilczyńska, Izabella; Jagodziński, Paweł P

    2014-04-01

    Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common structural malformation with a complex and multifactorial aetiology. Associations of abnormalities in phenylalanine metabolism and orofacial clefts have been suggested. Eight single nucleotide polymorphisms (SNPs) of genes encoding phenylalanine hydroxylase (PAH) and large neutral l-amino acid transporter type 1 (LAT1), as well as the PAH mutation that is most common in the Polish population (rs5030858; R408W), were investigated in 263 patients with NSCL/P and 270 matched controls using high resolution melting curve analysis (HRM). We found that two polymorphic variants of PAH appear to be risk factors for NSCL/P. The odds ratio (OR) for individuals with the rs7485331 A allele (AC or AA) compared to CC homozygotes was 0.616 (95% confidence interval [CI]=0.437-0.868; p=0.005) and this association remains statistically significant after multiple testing correction. The PAH rs12425434, previously associated with schizophrenia, was borderline associated with orofacial clefts. Moreover, haplotype analysis of polymorphisms in the PAH gene revealed a 4-marker combination that was significantly associated with NSCL/P. The global p-value for a haplotype comprised of SNPs rs74385331, rs12425434, rs1722392, and the mutation rs5030858 was 0.032, but this association did not survive multiple testing correction. This study suggests the involvement of the PAH gene in the aetiology of NSCL/P in the tested population. Further replication will be required in separate cohorts to confirm the consistency of the observed association. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. Emergency Department utilization among Deaf American Sign Language users.

    Science.gov (United States)

    McKee, Michael M; Winters, Paul C; Sen, Ananda; Zazove, Philip; Fiscella, Kevin

    2015-10-01

    Deaf American Sign Language (ASL) users comprise a linguistic minority population with poor health care access due to communication barriers and low health literacy. Potentially, these health care barriers could increase Emergency Department (ED) use. To compare ED use between deaf and non-deaf patients. A retrospective cohort from medical records. The sample was derived from 400 randomly selected charts (200 deaf ASL users and 200 hearing English speakers) from an outpatient primary care health center with a high volume of deaf patients. Abstracted data included patient demographics, insurance, health behavior, and ED use in the past 36 months. Deaf patients were more likely to be never smokers and be insured through Medicaid. In an adjusted analysis, deaf individuals were significantly more likely to use the ED (odds ratio [OR], 1.97; 95% confidence interval [CI], 1.11-3.51) over the prior 36 months. Deaf American Sign Language users appear to be at greater odds for elevated ED utilization when compared to the general hearing population. Efforts to further understand the drivers for increased ED utilization among deaf ASL users are much needed. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Violence against Deaf women: effect of partner hearing status.

    Science.gov (United States)

    Anderson, Melissa L; Kobek Pezzarossi, Caroline M

    2014-07-01

    Using a sample of Deaf female undergraduate students, the current study sought to investigate the prevalence, correlates, and characteristics of intimate partner violence victimization in hearing-Deaf and Deaf-Deaf relationships. Initial results suggest that similarities in hearing status and communication preference are associated with increased levels of negotiation within these relationships. However, compatibility in these areas did not co-occur with significant decreases in physical, psychological, or sexual partner violence. Recommendations for future research as well as implications for clinical and educational practice are outlined. © The Author 2013. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  3. Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.

    Directory of Open Access Journals (Sweden)

    Dongyan Fan

    Full Text Available Different ethnic groups have distinct mutation spectrums associated with inheritable deafness. In order to identify the mutations responsible for congenital hearing loss in the Tibetan population, mutation screening for 98 deafness-related genes by microarray and massively parallel sequencing of captured target exons was conducted in one Tibetan family with familiar hearing loss. A homozygous mutation, TMPRSS3: c.535G>A, was identified in two affected brothers. Both parents are heterozygotes and an unaffected sister carries wild type alleles. The same mutation was not detected in 101 control Tibetan individuals. This missense mutation results in an amino acid change (p.Ala179Thr at a highly conserved site in the scavenger receptor cysteine rich (SRCR domain of the TMPRSS3 protein, which is essential for protein-protein interactions. Thus, this mutation likely affects the interactions of this transmembrane protein with extracellular molecules. According to our bioinformatic analyses, the TMPRSS3: c.535G>A mutation might damage protein function and lead to hearing loss. These data suggest that the homozygous mutation TMPRSS3: c.535G>A causes prelingual hearing loss in this Tibetan family. This is the first TMPRSS3 mutation found in the Chinese Tibetan population.

  4. A Sign Language Screen Reader for Deaf

    Science.gov (United States)

    El Ghoul, Oussama; Jemni, Mohamed

    Screen reader technology has appeared first to allow blind and people with reading difficulties to use computer and to access to the digital information. Until now, this technology is exploited mainly to help blind community. During our work with deaf people, we noticed that a screen reader can facilitate the manipulation of computers and the reading of textual information. In this paper, we propose a novel screen reader dedicated to deaf. The output of the reader is a visual translation of the text to sign language. The screen reader is composed by two essential modules: the first one is designed to capture the activities of users (mouse and keyboard events). For this purpose, we adopted Microsoft MSAA application programming interfaces. The second module, which is in classical screen readers a text to speech engine (TTS), is replaced by a novel text to sign (TTSign) engine. This module converts text into sign language animation based on avatar technology.

  5. THE DEAF PERSON INCLUSION OF HIGHER EDUCATION

    OpenAIRE

    Rose Mery Gómez Tovar

    2013-01-01

    The research that is presented in this study is based on my experience with deaf students from the Psicology and therapist faculty of human communication which is an academic unit from the Juarez University of the Durango state. This article compiles and analyzes the process of inclusive and educational settings that the institution has.  This study is executed from the adoption of the analysis model of the biographic narrative investigation seen from the cualitative paradigm. In this project...

  6. Magnetic resonance imaging in sudden deafness

    International Nuclear Information System (INIS)

    Ramos, Hugo Valter Lisboa; Barros, Flavia Alencar; Penido, Norma de Oliveira; Souza, Ana Claudia Valerio de; Yamaoka, Wellington Yugo; Yamashita, Helio

    2005-01-01

    The etiology of sudden deafness can remain undetermined despite extensive investigation. This study addresses the value of magnetic resonance imaging in the analysis of sudden deafness patients.Study Design: transversal cohort.Material And Method: In a prospective study, 49 patients attended at otolaryngology emergency room of Federal University of Sao Paulo - Escola Paulista de Medicina, from April 2001 to May 2003, were submitted to magnetic resonance imaging.Results: Magnetic Resonance abnormalities were seen in 23 (46.9%) patients and revealed two tumors suggestive of meningioma, three vestibular schwannomas, thirteen microangiopathic changes of the brain and five (21.7%) pathological conditions of the labyrinth.Conclusion: Sudden deafness should be approached as a symptom common to different diseases. The presence of cerebellopontine angle tumors in 10.2% of our cases, among other treatable causes, justifies the recommendation of gadolinium-enhanced magnetic resonance use, not only to study the auditory peripheral pathway, but to study the whole auditory pathway including the brain. (author)

  7. Signal processing for the profoundly deaf.

    Science.gov (United States)

    Boothyroyd, A

    1990-01-01

    Profound deafness, defined here as a hearing loss in excess of 90 dB, is characterized by high thresholds, reduced hearing range in the intensity and frequency domains, and poor resolution in the frequency and time domains. The high thresholds call for hearing aids with unusually high gains or remote microphones that can be placed close to the signal source. The former option creates acoustic feedback problems for which digital signal processing may yet offer solutions. The latter option calls for carrier wave technology that is already available. The reduced frequency and intensity ranges would appear to call for frequency and/or amplitude compression. It might also be argued, however, that any attempts to compress the acoustic signal into the limited hearing range of the profoundly deaf will be counterproductive because of poor frequency and time resolution, especially when the signal is present in noise. In experiments with a 2-channel compression system, only 1 of 9 subjects showed an improvement of perception with the introduction of fast-release (20 ms) compression. The other 8 experienced no benefit or a slight deterioration of performance. These results support the concept of providing the profoundly deaf with simpler, rather than more complex, patterns, perhaps through the use of feature extraction hearing aids. Data from users of cochlear implants already employing feature extraction techniques also support this concept.

  8. Spelling Processes of Children With Nonsyndromic Cleft Lip and/or Palate: A Preliminary Study.

    Science.gov (United States)

    Lee, Karen Shi Mei; Young, Selena Ee-Li; Liow, Susan Jane Rickard; Purcell, Alison Anne

    2015-01-01

    Objective :  To compare the cognitive-linguistic processes underlying spelling performance of children with cleft lip and/or palate with those of typically developing children. Design :  An assessment battery including tests of hearing, articulation, verbal short-term and working memory, and phonological awareness, as well as word and nonword spelling, was administered to both groups. Participants :  A total of 15 children with nonsyndromic cleft lip and/or palate were case-matched by age and sex to 15 typically developing children. The children were aged between 6 and 8 years and were bilingual, with English the dominant language. Results :  Wilcoxon signed-rank tests revealed that the performance of children with cleft lip and/or palate was significantly poorer on phoneme deletion and nonword spelling (P spelling measures for the cleft lip and/or palate and typically developing groups. Conclusions :  Children with cleft lip and/or palate underachieve in phonological awareness and spelling skills. To facilitate early intervention for literacy problems, speech-language pathologists should routinely assess the cognitive-linguistic processing of children with cleft lip and/or palate, especially phonological awareness, as part of their case management protocols.

  9. Non-syndromic supernumerary teeth: report of a case with 6 supernumerary teeth

    Directory of Open Access Journals (Sweden)

    Taghibakhsh M

    2011-02-01

    Full Text Available "nBackground and Aims: Multiple supernumerary teeth are rare and often found in association with syndromes such as Gardner, Cleidocranial dysplasia and cleft lip and palate, with a much less chance for isolated"nnon-syndromic cases. The aim of this study was to report a case with 6 supernumerary teeth without syndromic association."nCase Report: The patient was a 33 year-old female, referred to oral diseases and diagnosis department with chief complaint of sensitivity to cold and hot food in right upper premolar region. Oral examination revealed 5 erupted lingually supernumerary teeth (four in mandibular and one in maxillary premolar region, respectively. Further panoramic radiography clarified an extra impacted tooth in the palatal region of left premolar maxillary area. All extra teeth had been appeared since the age of 17 during one year, as the patient claimed. Medical history and thorough clinical and paraclinical examinations were not significant except for the hypothyroidism, since 5 years ago. No other family member noticed to be the case. Based on our findings, a diagnosis of non-syndromic multiple supernumerary teeth was established."nConclusion: A thorough examination of each patient presented with supernumerary teeth, including panoramic and intraoral radiographic images may provide valuable information regarding accompanying syndromes and unerupted teeth. Early diagnosis is an essential step for orthodontic or surgical decisions making, preventing or avoiding worsening complications such as malocclusion, adjacent normal teeth delayed eruption or rotation, diasthema, cystic lesions and resorption of contiguous teeth.

  10. Molecular distribution of deafness loci in variou ethnic groups of the punjab, pakistan

    International Nuclear Information System (INIS)

    Ullah, S.; Aslam, K.M.

    2015-01-01

    To determine the existence of autosomal recessive deafness loci in different ethnic tribes of the Punjab. Study Design: Descriptive observational study. Place and Duration of Study: Department of Human Genetics and Centre of Excellence in Molecular Biology, University of Health Sciences, Lahore, from July 2009 to March 2012. Methodology: Healthy willing subjects with autosomal recessive deafness loci were studied for selected deafness loci. Those who were unhealthy and gave history of infectious disease were excluded. DNA extraction was carried out using the inorganic method. Fluorescently labeled microsatellite markers were used for amplification of desired regions by PCR (Polymerase Chain Reaction). Automated allele assignment was performed using the ABI PRISM GeneScan Analysis Software Version 3.7 for Windows NT Platform. Two-point LOD scores were calculated using the FASTLINK computer package (Schaffer 1996) and MLINK was used for calculation and 95% CI (confidence intervals) were calculated. Results: One hundred and thirty two individuals of 8 families were analyzed. Three families (SAPun-03, SAPun-10 and SAPun-15) were found linked to DFNB12; two families (SAPun-05 and SAPun-17) were found linked to DFNB8/10, while three families (SAPun-06, SAPun-13 and SAPun-19) were found linked to DFNB29, DFNB36 and DFNB37 respectively. Conclusion: The genotyping results revealed that DFNB12 locus was the most common followed by DFNB8/10 locus, while the Loci DFNB29, DFNB36 and DFNB37 were less common. (author)

  11. Emotion Understanding in Deaf Children with a Cochlear Implant

    Science.gov (United States)

    Wiefferink, Carin H.; Rieffe, Carolien; Ketelaar, Lizet; De Raeve, Leo; Frijns, Johan H. M.

    2013-01-01

    It is still largely unknown how receiving a cochlear implant affects the emotion understanding in deaf children. We examined indices for emotion understanding and their associations with communication skills in children aged 2.5-5 years, both hearing children (n = 52) and deaf children with a cochlear implant (n = 57). 2 aspects of emotion…

  12. Deaf children's understanding of emotions: desires take precedence

    NARCIS (Netherlands)

    Rieffe, C.J.; Meerum Terwogt, M.

    2000-01-01

    Deaf children frequently have trouble understanding other people's emotions. It has been suggested that an impaired theory of mind can account for this. This research focused on the spontaneous use of mental states in explaining other people's emotions by 6- and 10-year-old deaf children as compared

  13. Monaural Congenital Deafness Affects Aural Dominance and Degrades Binaural Processing

    Science.gov (United States)

    Tillein, Jochen; Hubka, Peter; Kral, Andrej

    2016-01-01

    Cortical development extensively depends on sensory experience. Effects of congenital monaural and binaural deafness on cortical aural dominance and representation of binaural cues were investigated in the present study. We used an animal model that precisely mimics the clinical scenario of unilateral cochlear implantation in an individual with single-sided congenital deafness. Multiunit responses in cortical field A1 to cochlear implant stimulation were studied in normal-hearing cats, bilaterally congenitally deaf cats (CDCs), and unilaterally deaf cats (uCDCs). Binaural deafness reduced cortical responsiveness and decreased response thresholds and dynamic range. In contrast to CDCs, in uCDCs, cortical responsiveness was not reduced, but hemispheric-specific reorganization of aural dominance and binaural interactions were observed. Deafness led to a substantial drop in binaural facilitation in CDCs and uCDCs, demonstrating the inevitable role of experience for a binaural benefit. Sensitivity to interaural time differences was more reduced in uCDCs than in CDCs, particularly at the hemisphere ipsilateral to the hearing ear. Compared with binaural deafness, unilateral hearing prevented nonspecific reduction in cortical responsiveness, but extensively reorganized aural dominance and binaural responses. The deaf ear remained coupled with the cortex in uCDCs, demonstrating a significant difference to deprivation amblyopia in the visual system. PMID:26803166

  14. Effect of Peer Education on Deaf Secondary School Students' HIV ...

    African Journals Online (AJOL)

    This study evaluated the effect of an AIDS education program on deaf secondary school students' knowledge, attitude and perceived susceptibility to AIDS using peer education. Two secondary schools matched for ownership (government), composition (mixture of hearing and deaf) and teaching arrangement (separate ...

  15. 77 FR 42187 - Relay Services for Deaf-Blind Individuals

    Science.gov (United States)

    2012-07-18

    ... for Deaf-Blind Individuals AGENCY: Federal Communications Commission. ACTION: Final rule; announcement... the Commission's Implementation of the Twenty-First Century Communications and Video Accessibility Act of 2010, Section 105, Relay Services for Deaf-Blind Individuals, Order (Order). This document is...

  16. 76 FR 31261 - Relay Services for Deaf-Blind Individuals

    Science.gov (United States)

    2011-05-31

    ... for Deaf-Blind Individuals AGENCY: Federal Communications Commission. ACTION: Final rule; correction... Federal Register of May 9, 2011, 76 FR 26641. The document adopts rules to establish the National Deaf... Communications and Video Accessibility Act (CVAA). DATES: Effective June 8, 2011. FOR FURTHER INFORMATION CONTACT...

  17. Inclusive education for Deaf students: Literacy practices and South ...

    African Journals Online (AJOL)

    Inclusive education for Deaf students: Literacy practices and South African Sign Language. ... Southern African Linguistics and Applied Language Studies ... of inclusive education for Deaf students in a mainstream Further Education and Training (FET) classroom through the use of a South African Sign Language interpreter.

  18. The Implications of Congenital Deafness for Working Memory.

    Science.gov (United States)

    Chalifoux, Lisa M.

    1991-01-01

    A. Baddeley's model of the working memory of congenitally deaf persons is examined in light of research on encoding by this population. It is concluded that a model of the working memory of the deaf must include subsystems for articulatory, sign, and visual encoding. (Author/DB)

  19. A Sociolinguistic Profile of the Peruvian Deaf Community

    Science.gov (United States)

    Parks, Elizabeth; Parks, Jason

    2010-01-01

    A sociolinguistic survey of the sign language used by the deaf communities of Peru was conducted in November and December of 2007. For eight weeks, our survey team visited six deaf communities in the cities of Lima, Arequipa, Cusco, Trujillo, Chiclayo, and Iquitos. Using sociolinguistic questionnaires and recorded text testing (RTT) tools, we…

  20. Memory and Rehearsal Characteristics of Profoundly Deaf Children.

    Science.gov (United States)

    Bebko, James M.

    1984-01-01

    Tests 64 deaf students from oral and total communication settings to examine whether a deficiency in spontaneous strategy use accounts for their verbal short-term memory performance. Spontaneous rehearsal of both deaf samples seemed to emerge later than the hearing sample's and was inefficiently implemented and less effective in mediating recall…

  1. Reading comprehension of deaf children with cochlear implants

    NARCIS (Netherlands)

    Vermeulen, A.M.; Bon, W.H.J. van; Schreuder, R.; Knoors, H.E.T.; Snik, A.F.M.

    2007-01-01

    The reading comprehension and visual word recognition in 50 deaf children and adolescents with at least 3 years of cochlear implant (0) use were evaluated. Their skills were contrasted with reference data of 500 deaf children without CIs. The reading comprehension level in children with CIs was

  2. Complex word reading in Dutch deaf children and adults

    NARCIS (Netherlands)

    Hoogmoed, A.H. van; Knoors, H.E.T.; Schreuder, R.; Verhoeven, L.T.W.

    2013-01-01

    Children who are deaf are often delayed in reading comprehension. This delay could be due to problems in morphological processing during word reading. In this study, we investigated whether 6th grade deaf children and adults are delayed in comparison to their hearing peers in reading complex

  3. Complex Word Reading in Dutch Deaf Children and Adults

    Science.gov (United States)

    van Hoogmoed, Anne H.; Knoors, Harry; Schreuder, Robert; Verhoeven, Ludo

    2013-01-01

    Children who are deaf are often delayed in reading comprehension. This delay could be due to problems in morphological processing during word reading. In this study, we investigated whether 6th grade deaf children and adults are delayed in comparison to their hearing peers in reading complex derivational words and compounds compared to…

  4. Text Revision in Deaf and Hearing Bilingual Students

    Science.gov (United States)

    Teruggi, Lilia A.; Gutiérrez-Cáceres, Rafaela

    2016-01-01

    In this study we explored the revision process and strategies implemented by deaf and hearing students who attend the same bilingual school context (LIS and Italian). For that we analysed and compared the types and quality of revisions made by deaf and hearing participants to their first draft of a narrative text ("Frog, Where Are You?")…

  5. Motor Development of Deaf Children with and without Cochlear Implants

    Science.gov (United States)

    Gheysen, Freja; Loots, Gerrit; Van Waelvelde, Hilde

    2008-01-01

    The purpose of this study was to investigate the impact of a cochlear implant (CI) on the motor development of deaf children. The study involved 36 mainstreamed deaf children (15 boys, 21 girls; 4- to 12-years old) without any developmental problems. Of these children, 20 had been implanted. Forty-three hearing children constituted a comparison…

  6. Technologies of Language and the Embodied History of the Deaf.

    Science.gov (United States)

    McCleary, Leland

    2003-01-01

    Discusses the linguistic situation of the deaf and the shift in linguistic ideology from graphocentrism to orocentrism, which forms the scenario in which deaf people are struggling to legitimize their natural form of expression. Questions both graphocentrism and orocentrism and proposes neutral terms and a neutral perspective from which orality…

  7. Monaural Congenital Deafness Affects Aural Dominance and Degrades Binaural Processing.

    Science.gov (United States)

    Tillein, Jochen; Hubka, Peter; Kral, Andrej

    2016-04-01

    Cortical development extensively depends on sensory experience. Effects of congenital monaural and binaural deafness on cortical aural dominance and representation of binaural cues were investigated in the present study. We used an animal model that precisely mimics the clinical scenario of unilateral cochlear implantation in an individual with single-sided congenital deafness. Multiunit responses in cortical field A1 to cochlear implant stimulation were studied in normal-hearing cats, bilaterally congenitally deaf cats (CDCs), and unilaterally deaf cats (uCDCs). Binaural deafness reduced cortical responsiveness and decreased response thresholds and dynamic range. In contrast to CDCs, in uCDCs, cortical responsiveness was not reduced, but hemispheric-specific reorganization of aural dominance and binaural interactions were observed. Deafness led to a substantial drop in binaural facilitation in CDCs and uCDCs, demonstrating the inevitable role of experience for a binaural benefit. Sensitivity to interaural time differences was more reduced in uCDCs than in CDCs, particularly at the hemisphere ipsilateral to the hearing ear. Compared with binaural deafness, unilateral hearing prevented nonspecific reduction in cortical responsiveness, but extensively reorganized aural dominance and binaural responses. The deaf ear remained coupled with the cortex in uCDCs, demonstrating a significant difference to deprivation amblyopia in the visual system. © The Author 2016. Published by Oxford University Press.

  8. The Horror of Being Deaf and in Prison

    Science.gov (United States)

    Vernon, McCay

    2010-01-01

    Being deaf and in prison is a horror. The main fear of prison inmates, whether Deaf or hearing, is that they will be raped, killed, or subjected to other forms of violence. Such fears are based in reality. The recent overcrowding of jails and prisons has increased these problems significantly. A major reason for this situation is the blatant…

  9. Deaf Women: Educational Experiences and Self-Identity

    Science.gov (United States)

    Najarian, Cheryl G.

    2008-01-01

    Using life history interviews with 10 college educated Deaf women this paper investigates connections between early education and college experience and how they identified as Deaf. The women developed strategies as they managed their impressions while employing Goffman's practices of loyalty, discipline and circumspection. Acknowledging deafness…

  10. A Developmental Model Applied to Problems of Deafness.

    Science.gov (United States)

    Schlesinger, Hilde S.

    2000-01-01

    This "classic" article (1972) in the field of deaf studies includes some interpretive notes for current readers. The article examines the effect of deafness on basic developmental tasks at each of the eight developmental stages of Erik Erikson's theory of psychosocial development and explains the more successful passage through these…

  11. New Methodologies To Evaluate the Memory Strategies of Deaf Individuals.

    Science.gov (United States)

    Clark, Diane

    Prior studies have often confounded linguistic and perceptual performance when evaluating deaf subjects' skills, a confusion that may be responsible for results indicating lesser recall ability among the deaf. In this series of studies this linguistic/perceptual confound was investigated in both the iconic and short term memory of deaf…

  12. An Examination of Health Information Management by the Deaf

    Science.gov (United States)

    Karras, Elizabeth

    2010-01-01

    Little is known about how Deaf people perceive, access, and utilize interpersonal and media sources for health information. In light of the scarcity of research on health information management among this group, a two-phase study was conducted that included eight focus groups (N=39) and survey data (N=366) with Deaf participants to determine the…

  13. Cyborgization: Deaf Education for Young Children in the Cochlear Implantation Era

    Science.gov (United States)

    Valente, Joseph Michael

    2011-01-01

    The author, who was raised oral deaf himself, recounts a visit to a school for young deaf children and discovers that young d/Deaf children and their rights are subverted by the cochlear implantation empire. The hypercapitalist, techno-manic times of cochlear implantation has wreaked havoc to the lives of not only young children with deafness but…

  14. Sign Language and the Learning of Swedish by Deaf Children (Project TSD).

    Science.gov (United States)

    Jansson, Karin, Ed.

    1982-01-01

    A project in Sweden focuses on the early linguistic development of preschool deaf children in families where the parents are also deaf. The School for the Deaf in Sweden is involved with describing the Swedish language as it appears to a deaf learner, a description to be used as a basis for teacher training and inservice in the teaching of the…

  15. Perspectiva General sobre la Sordo-Ceguera (Overview on Deaf-Blindness). DB-LINK.

    Science.gov (United States)

    Miles, Barbara

    This overview provides basic information on the causes of deaf-blindness and the particular challenges faced by individuals who are deaf-blind. Causes of deaf-blindness include various syndromes, multiple congenital anomalies, prematurity, congenital prenatal dysfunction, and various postnatal causes. Differences between people deaf-blind from…

  16. Signs of Resistance: Peer Learning of Sign Languages within "Oral" Schools for the Deaf

    Science.gov (United States)

    Anglin-Jaffe, Hannah

    2013-01-01

    This article explores the role of the Deaf child as peer educator. In schools where sign languages were banned, Deaf children became the educators of their Deaf peers in a number of contexts worldwide. This paper analyses how this peer education of sign language worked in context by drawing on two examples from boarding schools for the deaf in…

  17. Monitoring the Achievement of Deaf Pupils in Sweden and Scotland: Approaches and Outcomes

    Science.gov (United States)

    Hendar, Ola; O'Neill, Rachel

    2016-01-01

    Over the past two decades there have been major developments in deaf education in many countries. Medical and technical advances have made it possible for more deaf children to hear and speak successfully. Most deaf pupils learn in ordinary classes in mainstream schools. In this article we explore patterns of achievements of deaf pupils to see if…

  18. Not Silent, Invisible: Literature's Chance Encounters with Deaf Heroes and Heroines

    Science.gov (United States)

    McDonald, Donna M.

    2010-01-01

    Literatures is both a rich resource and a blunt instrument in conveying the complexities of identity, in particular, the elusive "deaf identity". The rarity of the fully realized deaf person in memoir and fiction shapes the way readers regard deaf people and throws up fresh challenges in redesigning stories of deafness free of the taint of…

  19. Thirty Wonderful Years: A Program of Service to the Deaf and Hard of Hearing.

    Science.gov (United States)

    Seal, Albert G.

    A former vocational rehabilitation counselor for the deaf in Louisiana recounts his experiences in initiating the state program, and discusses education of counselors for the deaf, career planning, and vocational placement of young deaf adults. Also described is the development of a special program for the deaf at Delgado College in New Orleans.…

  20. The significance of deaf identity for psychological well-being

    DEFF Research Database (Denmark)

    Chapman, Madeleine; Dammeyer, Jesper

    2017-01-01

    of psychological well-being than those with a marginal identity. Further, it found that additional disability, educational level, and feeling discriminated against significantly and independently explained the degree of psychological well-being. Results are discussed here with respect to social identity theory......Research has paid attention to how deaf identity affects life outcomes such as psychological well-being. However, studies are often carried out with small samples and without controlling for other variables. This study examined how different forms of identity—deaf, hearing, bicultural (deaf...... and hearing), and marginal (neither deaf nor hearing)—were associated with levels of psychological well-being and a number of other variables. The sample was 742 adults with hearing loss in Denmark. The study found that those with a deaf, hearing or bicultural identity had significantly higher levels...

  1. Inclusive instruction and learning for deaf students in postsecondary education.

    Science.gov (United States)

    Foster, S; Long, G; Snell, K

    1999-01-01

    This article explores how students who are deaf and their instructors experience mainstream college classes. Both quantitative and qualitative procedures were used to examine student access to information and their sense of belonging and engagement in learning. Instructors were asked to discuss their approach to teaching and any instructional modifications made to address the needs of deaf learners. Results indicate that deaf students viewed classroom communication and engagement in a similar manner as their hearing peers. Deaf students were more concerned about the pace of instruction and did not feel as much a part of the 'university family' as did their hearing peers. Faculty generally indicated that they made few if any modifications for deaf students and saw support service faculty as responsible for the success or failure of these students. We discuss results of these and additional findings with regard to barriers to equal access and strategies for overcoming these barriers.

  2. Environmental assessment overview, Deaf Smith County site, Texas

    International Nuclear Information System (INIS)

    1986-05-01

    In February 1983, the US Department of Energy (DOE) identified a location in Deaf Smith County, Texas, as one of nine potentially acceptable sites for mined geologic repository for spent nuclear fuel and high-level radioactive waste. To determine their suitability, the Deaf Smith County site and eight other potentially acceptable sites have been evaluated in accordance with the DOE's General Guidelines for the Recommendation of Sites for the Nuclear Waste Repositories. The Deaf Smith County site is in the Permian Basin, which is one of five distinct geohydrologic settings considered for the first repository. On the basis of the evaluations reported in this EA, the DOE has found that the Deaf Smith County site is not disqualified under the guidelines. On the basis of these findings, the DOE is nominating the Deaf Smith County site as one of five sites suitable for characterization. 3 figs

  3. Deaf Stigma: Links Between Stigma and Well-Being Among Deaf Emerging Adults.

    Science.gov (United States)

    Mousley, Victoria L; Chaudoir, Stephenie R

    2018-05-31

    Although stigma has been linked to suboptimal psychological and physical health outcomes in marginalized communities such as persons of color, sexual minorities, and people living with HIV/AIDS, no known research has examined these effects among deaf individuals. In the present research, we examine the associations between anticipated, enacted, and internalized stigma and psychological well-being (i.e., depressive symptoms, anxiety) and physical well-being (i.e., quality of life, alcohol use) among a sample of 171 deaf emerging adults. Furthermore, we consider whether trait resilience and benefit-finding moderate these effects. Enacted stigma, but not anticipated or internalized stigma, was related to worse depressive symptoms, anxiety, and quality of life. However, none of these variables predicted alcohol use and neither resilience nor benefit-finding moderated these effects. These findings are consistent with other research among marginalized populations, though they are also the first to suggest that experiences of discrimination are related to suboptimal well-being among deaf emerging adults. The discussion considers how these findings may illuminate the potential causes of disparities in well-being between hearing and deaf emerging adults.

  4. Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

    Science.gov (United States)

    Belge, Hendrica; Dahan, Karin; Cambier, Jean-François; Benoit, Valérie; Morelle, Johann; Bloch, Julie; Vanhille, Philippe; Pirson, Yves; Demoulin, Nathalie

    2017-05-01

    Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene. Due to its wide range of penetrance and expressivity, the disease may not always be recognized. We herein describe clinical and genetic features of patients with HDR syndrome, highlighting diagnostic clues. Medical records of eight patients from five unrelated families exhibiting GATA-3 mutations were reviewed retrospectively, in conjunction with all previously reported cases. HDR syndrome was diagnosed in eight patients between the ages of 18 and 60 years. Sensorineural deafness was consistently diagnosed, ranging from clinical hearing loss since infancy in seven patients to deafness detected only by audiometry in adulthood in one single patient. Hypoparathyroidism was present in six patients (with hypocalcaemia and inaugural seizures in two out of six). Renal abnormalities observed in six patients were diverse and of dysplastic nature. Three patients displayed nephrotic-range proteinuria and reached end-stage renal disease (ESRD) between the ages of 19 and 61 years, whilst lesions of focal and segmental glomerulosclerosis were histologically demonstrated in one of them. Interestingly, phenotype severity differed significantly between a mother and son within one family. Five new mutations of GATA-3 were identified, including three missense mutations affecting zinc finger motifs [NM_001002295.1: c.856A>G (p.N286D) and c.1017C>G (p.C339W)] or the conserved linker region [c.896G>A (p.R299G)], and two splicing mutations (c.924+4_924+19del and c.1051-2A>G). Review of 115 previously reported cases of GATA-3 mutations showed hypoparathyroidism and deafness in 95% of patients, and renal abnormalities in only 60%. Overall, 10% of patients had reached ESRD. We herein expand the clinical and mutational spectrum of HDR syndrome, illustrating considerable inter- and intrafamilial phenotypic variability. Diagnosis of HDR should be

  5. Gene

    Data.gov (United States)

    U.S. Department of Health & Human Services — Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes,...

  6. College Students Who Are Deaf-Blind. Practice Perspectives--Highlighting Information on Deaf-Blindness. Number 7

    Science.gov (United States)

    Arndt, Katrina

    2011-01-01

    Imagine being in college and being deaf-blind. What opportunities might you have? What types of challenges would you face? This publication describes a study that begins to answer these questions. During the study, 11 college students with deaf-blindness were interviewed about their college experiences. They were like most college students in many…

  7. Language development in deaf children’s interactions with deaf and hearing adults. A Dutch longitudinal study

    NARCIS (Netherlands)

    Klatter-Folmer, H.A.K.; Hout, R.W.N.M. van; Kolen, E.; Verhoeven, L.T.W.

    2006-01-01

    The language development of two deaf girls and four deaf boys in Sign Language of the Netherlands (SLN) and spoken Dutch was investigated longitudinally. At the start, the mean age of the children was 3;5. All data were collected in video-recorded semistructured conversations between individual

  8. Educational Outcomes of Young People in Scotland Who Are Deaf or Hard of Hearing: Intersections of Deafness and Social Class

    Science.gov (United States)

    Fordyce, Mariela; Riddell, Sheila; O'Neill, Rachel; Weedon, Elisabet

    2015-01-01

    This article focuses on the intersection between deafness and social class in the context of the unstable economic circumstances in Scotland following the 2007 recession. More specifically, this research investigated the following in the case of young people who are deaf or hard of hearing (DHH): (1) the interaction between educational attainment…

  9. Visual advantage in deaf adults linked to retinal changes.

    Directory of Open Access Journals (Sweden)

    Charlotte Codina

    Full Text Available The altered sensory experience of profound early onset deafness provokes sometimes large scale neural reorganisations. In particular, auditory-visual cross-modal plasticity occurs, wherein redundant auditory cortex becomes recruited to vision. However, the effect of human deafness on neural structures involved in visual processing prior to the visual cortex has never been investigated, either in humans or animals. We investigated neural changes at the retina and optic nerve head in profoundly deaf (N = 14 and hearing (N = 15 adults using Optical Coherence Tomography (OCT, an in-vivo light interference method of quantifying retinal micro-structure. We compared retinal changes with behavioural results from the same deaf and hearing adults, measuring sensitivity in the peripheral visual field using Goldmann perimetry. Deaf adults had significantly larger neural rim areas, within the optic nerve head in comparison to hearing controls suggesting greater retinal ganglion cell number. Deaf adults also demonstrated significantly larger visual field areas (indicating greater peripheral sensitivity than controls. Furthermore, neural rim area was significantly correlated with visual field area in both deaf and hearing adults. Deaf adults also showed a significantly different pattern of retinal nerve fibre layer (RNFL distribution compared to controls. Significant correlations between the depth of the RNFL at the inferior-nasal peripapillary retina and the corresponding far temporal and superior temporal visual field areas (sensitivity were found. Our results show that cross-modal plasticity after early onset deafness may not be limited to the sensory cortices, noting specific retinal adaptations in early onset deaf adults which are significantly correlated with peripheral vision sensitivity.

  10. Deaf identities in a multicultural setting: The Ugandan context

    Directory of Open Access Journals (Sweden)

    Anthony B. Mugeere

    2015-05-01

    Full Text Available Often located far apart from each other, deaf and hearing impaired persons face a multiplicity of challenges that evolve around isolation, neglect and the deprivation of essential social services that affect their welfare and survival. Although it is evident that the number of persons born with or acquire hearing impairments in later stages of their lives is increasing in many developing countries, there is limited research on this population. The main objective of this article is to explore the identities and experiences of living as a person who is deaf in Uganda. Using data from semi-structured interviews with 42 deaf persons (aged 19–41 and three focus group discussions, the study findings show that beneath the more pragmatic identities documented in the United States and European discourses there is a matrix of ambiguous, often competing and manifold forms in Uganda that are not necessarily based on the deaf and deaf constructions. The results further show that the country’s cultural, religious and ethnic diversity is more of a restraint than an enabler to the aspirations of the deaf community. The study concludes that researchers and policy makers need to be cognisant of the unique issues underlying deaf epistemologies whilst implementing policy and programme initiatives that directly affect them. The upper case ‘D’ in the term deaf is a convention that has been used since the early 1970s to connote a ‘socially constructed visual culture’ or a linguistic, social and cultural minority group who use sign language as primary means of communication and identify with the deaf community, whereas the lower case ‘d’ in deaf refers to ‘the audio logical condition of hearing impairment’. However, in this article the lower case has been used consistently.

  11. Deaf identities in a multicultural setting: The Ugandan context

    Science.gov (United States)

    Atekyereza, Peter R.; Kirumira, Edward K.; Hojer, Staffan

    2015-01-01

    Often located far apart from each other, deaf and hearing impaired persons face a multiplicity of challenges that evolve around isolation, neglect and the deprivation of essential social services that affect their welfare and survival. Although it is evident that the number of persons born with or acquire hearing impairments in later stages of their lives is increasing in many developing countries, there is limited research on this population. The main objective of this article is to explore the identities and experiences of living as a person who is deaf in Uganda. Using data from semi-structured interviews with 42 deaf persons (aged 19–41) and three focus group discussions, the study findings show that beneath the more pragmatic identities documented in the United States and European discourses there is a matrix of ambiguous, often competing and manifold forms in Uganda that are not necessarily based on the deaf and deaf constructions. The results further show that the country's cultural, religious and ethnic diversity is more of a restraint than an enabler to the aspirations of the deaf community. The study concludes that researchers and policy makers need to be cognisant of the unique issues underlying deaf epistemologies whilst implementing policy and programme initiatives that directly affect them. The upper case ‘D’ in the term deaf is a convention that has been used since the early 1970s to connote a ‘socially constructed visual culture’ or a linguistic, social and cultural minority group who use sign language as primary means of communication and identify with the deaf community, whereas the lower case ‘d’ in deaf refers to ‘the audio logical condition of hearing impairment’. However, in this article the lower case has been used consistently. PMID:28730015

  12. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

    Science.gov (United States)

    Khordadpoor-Deilamani, Faravareh; Akbari, Mohammad Taghi; Karimipoor, Morteza; Javadi, Gholamreza

    2015-01-01

    Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented eyes (in patients with ocular albinism) or hair, skin, and eyes (in individuals with oculocutaneous albinism). It is associated with decreased visual acuity, nystagmus, strabismus, and photophobia. The tyrosinase gene is known to be involved in both oculocutaneous albinism and autosomal recessive ocular albinism. In this study, we aimed to screen the mutations in the TYR gene in the nonsyndromic OCA and autosomal recessive ocular albinism patients from Iran. The tyrosinase gene was examined in 23 unrelated patients with autosomal recessive ocular albinism or nonsyndromic OCA using DNA sequencing and bioinformatics analysis. TYR gene mutations were identified in 14 (app. 60%) albinism patients. We found 10 mutations, 3 of which were novel. No mutation was found in our ocular albinism patients, but one of them was heterozygous for the p.R402Q polymorphism.

  13. Behavioral Signs of (Central) Auditory Processing Disorder in Children With Nonsyndromic Cleft Lip and/or Palate: A Parental Questionnaire Approach.

    Science.gov (United States)

    Ma, Xiaoran; McPherson, Bradley; Ma, Lian

    2016-03-01

    Objective Children with nonsyndromic cleft lip and/or palate often have a high prevalence of middle ear dysfunction. However, there are also indications that they may have a higher prevalence of (central) auditory processing disorder. This study used Fisher's Auditory Problems Checklist for caregivers to determine whether children with nonsyndromic cleft lip and/or palate have potentially more auditory processing difficulties compared with craniofacially normal children. Methods Caregivers of 147 school-aged children with nonsyndromic cleft lip and/or palate were recruited for the study. This group was divided into three subgroups: cleft lip, cleft palate, and cleft lip and palate. Caregivers of 60 craniofacially normal children were recruited as a control group. Hearing health tests were conducted to evaluate peripheral hearing. Caregivers of children who passed this assessment battery completed Fisher's Auditory Problems Checklist, which contains 25 questions related to behaviors linked to (central) auditory processing disorder. Results Children with cleft palate showed the lowest scores on the Fisher's Auditory Problems Checklist questionnaire, consistent with a higher index of suspicion for (central) auditory processing disorder. There was a significant difference in the manifestation of (central) auditory processing disorder-linked behaviors between the cleft palate and the control groups. The most common behaviors reported in the nonsyndromic cleft lip and/or palate group were short attention span and reduced learning motivation, along with hearing difficulties in noise. Conclusion A higher occurrence of (central) auditory processing disorder-linked behaviors were found in children with nonsyndromic cleft lip and/or palate, particularly cleft palate. Auditory processing abilities should not be ignored in children with nonsyndromic cleft lip and/or palate, and it is necessary to consider assessment tests for (central) auditory processing disorder when an

  14. Deaf capital: an exploration of the relationship between stigma and value in deaf multilevel marketing participation in Urban India.

    Science.gov (United States)

    Friedner, Michele

    2014-12-01

    This article ethnographically examines how some deaf people in urban India have begun to orient themselves toward the future by participating in multilevel marketing businesses. In the absence of other structural possibilities for deaf future-making, deaf Indians have turned to such businesses in search of social, economic, and moral livelihood. This article analyzes participation in one particular business and asks how participating within the business both enables and disables the cultivation of specific ideas of development. Particular attention is devoted to exploring the multiple registers of the concept of "deaf development" and how such development may be cultivated through multilevel marketing businesses. This article aims to make a critical intervention in medical anthropology studies of disability by arguing that disability (or in this case deafness) can function as a source of value, therefore highlighting tensions between stigma and value. © 2014 by the American Anthropological Association.

  15. A professional development programme for teachers of the deaf in South Africa

    OpenAIRE

    2012-01-01

    D.Ed. Education for the Deaf in South Africa appears to be insufficiently researched, contributing to a less than ideal educational situation. Teachers are not trained to address the special needs of Deaf learners, there is limited cohesive instructional theory and the educational policy focussing on the needs of Deaf learners is limited in both range and depth. Due to the ineffectiveness of Deaf education in South Africa, the majority of Deaf school leavers leave school linguistically imp...

  16. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

    DEFF Research Database (Denmark)

    Rehman, Shoaib ur; Baig, Shahid Mahmood; Eiberg, Hans

    2011-01-01

    done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z......Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive...

  17. THE DEAF PERSON INCLUSION OF HIGHER EDUCATION

    Directory of Open Access Journals (Sweden)

    Rose Mery Gómez Tovar

    2013-12-01

    Full Text Available The research that is presented in this study is based on my experience with deaf students from the Psicology and therapist faculty of human communication which is an academic unit from the Juarez University of the Durango state. This article compiles and analyzes the process of inclusive and educational settings that the institution has.  This study is executed from the adoption of the analysis model of the biographic narrative investigation seen from the cualitative paradigm. In this project, the collected information is interpreted through the narrations, interviews, photo evidences and recordings make to the participants in order to give an appropriate response to the different objectives.

  18. Prevalence and characteristics of non-syndromic orofacial clefts and the influence of consanguinity.

    Science.gov (United States)

    Alamoudi, N M; Sabbagh, H J; Innes, N P T; El Derwi, D; Hanno, A Z; Al-Aama, J Y; Habiballah, A H; Mossey, P A

    2014-01-01

    The Objective of this study was to identify the prevalence and describe the characteristics of non-syndromic orofacial cleft (NSOFC) in Jeddah, Saudi Arabia and examine the influence of consanguinity. Six hospitals were selected to represent Jeddah's five municipal districts. New born infants with NSOFC born between 1st of January 2010 to 31st of December 2011 were clinically examined and their number compared to the total number of infants born in these hospitals to calculate the prevalence of NSOFC types and sub-phenotypes. Referred Infants were included for the purpose of studying NSOFC characteristics and their relationship to consanguinity. Information on NSOFC infants was gathered through parents' interviews, infants 'files and patient examinations. Prospective surveillance of births resulted in identifying 37 NSOFC infants born between 1st of January 2010 to 31st of December 2011 giving a birth prevalence of 0.80/1000 living births. The total infants seen, including referred cases, were 79 children. Consanguinity among parents of cleft palate (CP) cases was statistically higher than that among cleft lip with or without cleft palate (CL/P) patients (P = 0.039). Although there appears to be a trend in the relationship between consanguinity and severity of CL/P sub-phenotype, it was not statistically significant (P = 0.248). Birth prevalence of NSOFC in Jeddah City was 0.8/1000 live births with CL/P: 0.68/1000 and CP: 0.13/1000. Both figures were low compared to the global birth prevalence (NSOFC: 1.25/1000, CL/P: 0.94/1000 and CP: 0.31/1000 live births). Consanguineous parents were statistically higher among CP cases than among other NSOFC phenotypes.

  19. Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

    OpenAIRE

    García-García, Gema; Aller, Elena; Jaijo, Teresa; Aparisi, Maria J.; Larrieu, Lise; Faugère, Valérie; Blanco-Kelly, Fiona; Ayuso, Carmen; Roux, Anne-Francoise; Millán, José M.

    2014-01-01

    Purpose The aim of the present work was to identify and characterize large rearrangements involving the USH2A gene in patients with Usher syndrome and nonsyndromic retinitis pigmentosa. Methods The multiplex ligation-dependent probe amplification (MLPA) technique combined with a customized array-based comparative genomic hybridization (aCGH) analysis was applied to 40 unrelated patients previously screened for point mutations in the USH2A gene in which none or only one pathologic mutation was...

  20. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

    Science.gov (United States)

    Kimberling, William J; Hildebrand, Michael S; Shearer, A Eliot; Jensen, Maren L; Halder, Jennifer A; Trzupek, Karmen; Cohn, Edward S; Weleber, Richard G; Stone, Edwin M; Smith, Richard J H

    2010-08-01

    Usher syndrome is a major cause of genetic deafness and blindness. The hearing loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in early childhood to the middle teenage years. Its frequency may be underestimated. Newly developed molecular technologies can detect the underlying gene mutation of this disorder early in life providing estimation of its prevalence in at risk pediatric populations and laying a foundation for its incorporation as an adjunct to newborn hearing screening programs. A total of 133 children from two deaf and hard of hearing pediatric populations were genotyped first for GJB2/6 and, if negative, then for Usher syndrome. Children were scored as positive if the test revealed > or =1 pathogenic mutations in any Usher gene. Fifteen children carried pathogenic mutations in one of the Usher genes; the number of deaf and hard of hearing children carrying Usher syndrome mutations was 15/133 (11.3%). The population prevalence was estimated to be 1/6000. Usher syndrome is more prevalent than has been reported before the genome project era. Early diagnosis of Usher syndrome has important positive implications for childhood safety, educational planning, genetic counseling, and treatment. The results demonstrate that DNA testing for Usher syndrome is feasible and may be a useful addition to newborn hearing screening programs.

  1. Health care system accessibility. Experiences and perceptions of deaf people.

    Science.gov (United States)

    Steinberg, Annie G; Barnett, Steven; Meador, Helen E; Wiggins, Erin A; Zazove, Philip

    2006-03-01

    People who are deaf use health care services differently than the general population; little research has been carried out to understand the reasons. To better understand the health care experiences of deaf people who communicate in American Sign Language. Qualitative analyses of focus group discussions in 3 U.S. cities. Ninety-one deaf adults who communicate primarily in American Sign Language. We collected information about health care communication and perceptions of clinicians' attitudes. We elicited stories of both positive and negative encounters, as well as recommendations for improving health care. Communication difficulties were ubiquitous. Fear, mistrust, and frustration were prominent in participants' descriptions of health care encounters. Positive experiences were characterized by the presence of medically experienced certified interpreters, health care practitioners with sign language skills, and practitioners who made an effort to improve communication. Many participants acknowledged limited knowledge of their legal rights and did not advocate for themselves. Some participants believed that health care practitioners should learn more about sociocultural aspects of deafness. Deaf people report difficulties using health care services. Physicians can facilitate change to improve this. Future research should explore the perspective of clinicians when working with deaf people, ways to improve communication, and the impact of programs that teach deaf people self-advocacy skills and about their legal rights.

  2. Deaf women: experiences and perceptions of healthcare system access.

    Science.gov (United States)

    Steinberg, Annie G; Wiggins, Erin A; Barmada, Carlin Henry; Sullivan, Vicki Joy

    2002-10-01

    The authors investigated the knowledge, attitudes, and healthcare experiences of Deaf women. Interviews with 45 deaf women who participated in focus groups in American Sign Language were translated, transcribed, and analyzed. Deaf women's understanding of women's health issues, knowledge of health vocabulary in both English and American Sign Language, common health concerns among Deaf women, and issues of access to information, including pathways and barriers, were examined. As a qualitative study, the results of this investigation are limited and should be viewed as exploratory. A lack of health knowledge was evident, including little understanding of the meaning or value of cancer screening, mammography, or Pap smears; purposes of prescribed medications, such as hormone replacement therapy (HRT); or necessity for other medical or surgical interventions. Negative experiences and avoidance or nonuse of health services were reported, largely due to the lack of a common language with healthcare providers. Insensitive behaviors were also described. Positive experiences and increased access to health information were reported with practitioners who used qualified interpreters. Providers who demonstrated minimal signing skills, a willingness to use paper and pen, and sensitivity to improving communication were appreciated. Deaf women have unique cultural and linguistic issues that affect healthcare experiences. Improved access to health information may be achieved with specialized resource materials, improved prevention and targeted intervention strategies, and self-advocacy skills development. Healthcare providers must be trained to become more effective communicators with Deaf patients and to use qualified interpreters to assure access to healthcare for Deaf women.

  3. Utility of the ImPACT test with deaf adolescents.

    Science.gov (United States)

    Reesman, Jennifer; Pineda, Jill; Carver, Jenny; Brice, Patrick J; Zabel, T Andrew; Schatz, Philip

    2016-02-01

    The goals of the study included empirical examination of the utility of the Immediate and Post-Concussion Assessment and Cognitive Testing (ImPACT) test with adolescents who are deaf or hard-of-hearing and to investigate patterns of performance at baseline that may arise in the assessment of this population. Baseline assessment of student-athletes has been conducted on a widespread scale with focus on performance of typically developing student-athletes and some clinical groups, though to date no studies have examined adolescents who are deaf or hard-of-hearing. Retrospective and de-identified ImPACT baseline test used with deaf and hard-of-hearing high-school student-athletes (N = 143; 66% male, mean age = 16.11) was examined. Review indicated significant differences in some composite scores between the deaf and hard-of-hearing group and hearing normative comparisons. A possible marker of task misunderstanding was identified to occur more frequently within the deaf and hard-of-hearing sample (13% in deaf sample vs. .31% in hearing sample). Results may provide support for the consideration and use of additional measures to ensure comprehension of task demands when considering this tool for use with deaf and hard-of-hearing adolescents.

  4. The lived experience of depression among culturally Deaf adults.

    Science.gov (United States)

    Sheppard, K; Badger, T

    2010-11-01

    Culturally Deaf adults lost hearing at early ages, communicate primarily in American Sign Language (ASL), and self-identify as culturally Deaf. Communication barriers lead to isolation, low self-esteem, abuse, and inadequate health care. Screening Deaf patients for depressive symptoms poses challenge. Nurses are rarely familiar with ASL, and depression screening tools aren't easily translated from English to ASL. Consequently, Deaf adults are not adequately screened for depression. Qualitative interviews were conducted with culturally Deaf adults, and certified interpreters helped to enhance understanding. Text was generated from interview transcriptions and researcher observations. No novel depressive symptoms were described. Various ASL signs were used to represent depression; two participants used a unique gesture that had no meaning to others. Childhood experiences leading to depression included sexual or physical abuse, feeling ostracized from family and like a burden. Suicidal gestures communicated severity of depression. Adults felt interpreters were unwelcome during mental health encounters. No participants were asked about depressive symptoms despite frank manifestations of depression. Study describes antecedents and consequences of depressive symptoms among Deaf adults. Understanding symptom manifestations and challenges experienced by Deaf patients helps identify those at risk for depression, thereby reducing morbidity and mortality. © 2010 Blackwell Publishing.

  5. Calendar systems and communication of deaf-blind children

    Directory of Open Access Journals (Sweden)

    Jablan Branka

    2012-01-01

    Full Text Available The aim of this paper is to explain the calendar systems and their role in teaching deaf-blind children. Deaf-blind persons belong to a group of multiple disabled persons. This disability should not be observed as a simple composite of visual and hearing impairments, but as a combination of sensory impairments that require special assistance in the development, communication and training for independent living. In our environment, deaf-blind children are being educated in schools for children with visual impairments or in schools for children with hearing impairments (in accordance with the primary impairment. However, deaf-blind children cannot be trained by means of special programs for children with hearing impairment, visual impairment or other programs for students with developmental disabilities without specific attention required by such a combination of sensory impairments. Deaf-blindness must be observed as a multiple impairment that requires special work methods, especially in the field of communication, whose development is severely compromised. Communication skills in deaf-blind people can be developed by using the calendar systems. They are designed in such a manner that they can be easily attainable to children with various sensory impairments. Calendars can be used to encourage and develop communication between adult persons and a deaf-blind child.

  6. Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

    Science.gov (United States)

    Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R; Matsushita, Mark; Raskind, Wendy H

    2008-07-15

    The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair, and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. 2008 Wiley-Liss, Inc.

  7. THE VALUE SYSTEM IN DEAF POLISH ADOLESCENTS

    Directory of Open Access Journals (Sweden)

    Joanna KOSSEWSKA

    2011-09-01

    Full Text Available Adolescence is the core stage for the development of the value system, one of the most important determinants of the human identity. The issue discussed in this paper is the perception of the value system by the people with impaired hearing who constitute a cultural minority. Such assumption can be made based on the cross-cultural value survey conducted by S.H. Schwartz. The Schwartz’s approach was chosen in this research to measure the culture on individual level.Sixty-six deaf adolescent students from secondary residential schools aged between15 and 20 years (29 male, 37 female and 93 hearing students from boarding middle schools aged between 15 and 17 years (39 male and 54 female were tested by using the Schwartz Portrait Values Questionnaire.The results showed that the intergroup value system differences were modified by gender. Hearing adolescent males considered bene­volence, hedonism and stimulation as more important than female adolescents did. In the deaf subgroup, the females valued security, power and achievement more than males. The mode of communication within the family had only one significant effect: the use of signing language implies significantly higher level of conformity in comparison to the people who communicate verbally.

  8. The education of the deaf from exclusion to inclusion

    Directory of Open Access Journals (Sweden)

    Mª Carmen Gómez Gómez

    2018-04-01

    Full Text Available The education of deaf students normally begins to be studied from Ponce de Leon in a monastery of Burgos; but until this moment people with hearing loss or deafness have had moments in history with more or less acceptance. In primitive societies both could be protected as repudiated , depending on whether the deafness was considered a punishment or a gift of God holder . Over time , history has continued to generate periods of more or less accepted to be people, but especially after the Middle Ages and the eighteenth century past has been where most progress has been made towards integration and inclusion.

  9. Hearing children of Deaf parents: Gender and birth order in the delegation of the interpreter role in culturally Deaf families.

    Science.gov (United States)

    Moroe, Nomfundo F; de Andrade, Victor

    2018-01-01

    Culturally, hearing children born to Deaf parents may have to mediate two different positions within the hearing and Deaf cultures. However, there appears to be little written about the experiences of hearing children born to Deaf parents in the South African context. This study sought to investigate the roles of children of Deaf adults (CODAs) as interpreters in Deaf-parented families, more specifically, the influence of gender and birth order in language brokering. Two male and eight female participants between the ages of 21 and 40 years were recruited through purposive and snowball sampling strategies. A qualitative design was employed and data were collected using a semi-structured, open-ended interview format. Themes which emerged were analysed using thematic analysis. The findings indicated that there was no formal assignment of the interpreter role; however, female children tended to assume the role of interpreter more often than the male children. Also, it appeared as though the older children shifted the responsibility for interpreting to younger siblings. The participants in this study indicated that they interpreted in situations where they felt they were not developmentally or emotionally ready, or in situations which they felt were better suited for older siblings or for siblings of another gender. This study highlights a need for the formalisation of interpreting services for Deaf people in South Africa in the form of professional interpreters rather than the reliance on hearing children as interpreters in order to mediate between Deaf and hearing cultures.

  10. Hearing children of Deaf parents: Gender and birth order in the delegation of the interpreter role in culturally Deaf families

    Science.gov (United States)

    de Andrade, Victor

    2018-01-01

    Background Culturally, hearing children born to Deaf parents may have to mediate two different positions within the hearing and Deaf cultures. However, there appears to be little written about the experiences of hearing children born to Deaf parents in the South African context. Objective This study sought to investigate the roles of children of Deaf adults (CODAs) as interpreters in Deaf-parented families, more specifically, the influence of gender and birth order in language brokering. Method Two male and eight female participants between the ages of 21 and 40 years were recruited through purposive and snowball sampling strategies. A qualitative design was employed and data were collected using a semi-structured, open-ended interview format. Themes which emerged were analysed using thematic analysis. Results The findings indicated that there was no formal assignment of the interpreter role; however, female children tended to assume the role of interpreter more often than the male children. Also, it appeared as though the older children shifted the responsibility for interpreting to younger siblings. The participants in this study indicated that they interpreted in situations where they felt they were not developmentally or emotionally ready, or in situations which they felt were better suited for older siblings or for siblings of another gender. Conclusion This study highlights a need for the formalisation of interpreting services for Deaf people in South Africa in the form of professional interpreters rather than the reliance on hearing children as interpreters in order to mediate between Deaf and hearing cultures. PMID:29850437

  11. An unhappy and utterly pitiable creature? Life and self images of Deaf people in the Netherlands at the time of the founding fathers of Deaf education

    NARCIS (Netherlands)

    Tellings, A.E.J.M.; Tijsseling, C.

    2005-01-01

    This article describes how young deaf people in the Netherlands between 1809 and 1828 made the transition from living in a school for the Deaf,1 a rather protected community with mostly deaf people and with hearing people who could understand them rather well, to a life in hearing society with

  12. Deaf: A Concept Analysis From a Cultural Perspective Using the Wilson Method of Concept Analysis Development.

    Science.gov (United States)

    Pendergrass, Kathy M; Newman, Susan D; Jones, Elaine; Jenkins, Carolyn H

    2017-07-01

    The purpose of this article is to provide an analysis of the concept Deaf to increase health care provider (HCP) understanding from a cultural perspective. Deaf signers, people with hearing loss who communicate primarily in American Sign Language (ASL), generally define the term Deaf as a cultural heritage. In the health care setting, the term deaf is most often defined as a pathological condition requiring medical intervention. When HCPs are unaware that there are both cultural and pathological views of hearing loss, significant barriers may exist between the HCP and the Deaf individual. The concept of Deaf is analyzed using the Wilsonian method. Essential elements of the concept "Deaf" from a cultural perspective include a personal choice to communicate primarily in ASL and identify with the Deaf community. Resources for HCPs are needed to quickly identify Deaf signers and provide appropriate communication.

  13. The peculiar needs of deaf people: a study of selected members of the Lincolnshire deaf social group

    OpenAIRE

    Jones, K.

    1989-01-01

    In spite of the fact that services for deaf people have been provided since Victorian times, there is no "philosophy of deafness" and services are based upon the subjective observation of deaf people by "hearing" people. This study seeks to formulate such a philosophy, for those unable to hear spoken communication from birth or early childhood, based upon acceptance of the social limitations of being unable to hear in a society where the ready use of that sense is taken for granted.\\ud \\ud In...

  14. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

    NARCIS (Netherlands)

    Pierrache, Laurence H. M.; Hartel, Bas P.; van Wijk, Erwin; Meester-Smoor, Magda A.; Cremers, Frans P. M.; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J.; Cremers, Cor W. R. J.; Dagnelie, Gislin; Hoyng, Carel B.; Bergen, Arthur A.; Leroy, Bart P.; Pennings, Ronald J. E.; van den Born, L. Ingeborgh; Klaver, Caroline C. W.

    2016-01-01

    USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. Clinic-based, longitudinal, multicenter study.

  15. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

    NARCIS (Netherlands)

    Pierrache, Laurence H M; Hartel, Bas P; van Wijk, Erwin; Meester-Smoor, Magda A; Cremers, Frans P M; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J; Cremers, Cor W R J; Dagnelie, Gislin; Hoyng, Carel B; Bergen, Arthur A; Leroy, Bart P; Pennings, Ronald J E; van den Born, L Ingeborgh; Klaver, Caroline C W

    2016-01-01

    PURPOSE: USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. DESIGN: Clinic-based, longitudinal,

  16. The contribution of phonological knowledge, memory, and language background to reading comprehension in deaf populations

    Science.gov (United States)

    Hirshorn, Elizabeth A.; Dye, Matthew W. G.; Hauser, Peter; Supalla, Ted R.; Bavelier, Daphne

    2015-01-01

    While reading is challenging for many deaf individuals, some become proficient readers. Little is known about the component processes that support reading comprehension in these individuals. Speech-based phonological knowledge is one of the strongest predictors of reading comprehension in hearing individuals, yet its role in deaf readers is controversial. This could reflect the highly varied language backgrounds among deaf readers as well as the difficulty of disentangling the relative contribution of phonological versus orthographic knowledge of spoken language, in our case ‘English,’ in this population. Here we assessed the impact of language experience on reading comprehension in deaf readers by recruiting oral deaf individuals, who use spoken English as their primary mode of communication, and deaf native signers of American Sign Language. First, to address the contribution of spoken English phonological knowledge in deaf readers, we present novel tasks that evaluate phonological versus orthographic knowledge. Second, the impact of this knowledge, as well as memory measures that rely differentially on phonological (serial recall) and semantic (free recall) processing, on reading comprehension was evaluated. The best predictor of reading comprehension differed as a function of language experience, with free recall being a better predictor in deaf native signers than in oral deaf. In contrast, the measures of English phonological knowledge, independent of orthographic knowledge, best predicted reading comprehension in oral deaf individuals. These results suggest successful reading strategies differ across deaf readers as a function of their language experience, and highlight a possible alternative route to literacy in deaf native signers. Highlights: 1. Deaf individuals vary in their orthographic and phonological knowledge of English as a function of their language experience. 2. Reading comprehension was best predicted by different factors in oral deaf and

  17. Early Interactions with Children Who Are Deaf-Blind

    Science.gov (United States)

    ... of Deaf-Blind Education Transition to Adulthood > Transition Self Determination Person Centered Planning Postsecondary Education Independent Living Employment Customized Employment Sex Education Adult Services Technology Personnel > Intervener Services Support ...

  18. Genetics Home Reference: autosomal dominant cerebellar ataxia, deafness, and narcolepsy

    Science.gov (United States)

    ... may help regulate nerve cell (neuron) maturation and specialization (differentiation), the ability of neurons to move (migrate) ... Ataxia Foundation National Sleep Foundation University of Kansas Medical Center Resource List: Deafness and Hard of Hearing ...

  19. Skilled deaf readers have an enhanced perceptual span in reading.

    Science.gov (United States)

    Bélanger, Nathalie N; Slattery, Timothy J; Mayberry, Rachel I; Rayner, Keith

    2012-07-01

    Recent evidence suggests that, compared with hearing people, deaf people have enhanced visual attention to simple stimuli viewed in the parafovea and periphery. Although a large part of reading involves processing the fixated words in foveal vision, readers also utilize information in parafoveal vision to preprocess upcoming words and decide where to look next. In the study reported here, we investigated whether auditory deprivation affects low-level visual processing during reading by comparing the perceptual span of deaf signers who were skilled and less-skilled readers with the perceptual span of skilled hearing readers. Compared with hearing readers, the two groups of deaf readers had a larger perceptual span than would be expected given their reading ability. These results provide the first evidence that deaf readers' enhanced attentional allocation to the parafovea is used during complex cognitive tasks, such as reading.

  20. Compounding the Challenge: Young Deaf Children and Learning Disabilities.

    Science.gov (United States)

    Mauk, Gary W.; Mauk, Pamela P.

    1993-01-01

    This paper presents a definition of deaf and hard of hearing children with learning disabilities; notes the incidence of children with both disabilities; outlines roadblocks to learning; describes screening, diagnosis, and assessment practices; and offers suggestions for educational programming. (JDD)