Non-syndromic hearing loss
Original Article GJB2 and SLC26A4 gene mutations in children with non-syndromic hearing loss in Southern China
... Abstract: Non-syndromic hearing loss (NSHL) is a major public health issue and affects a substantial proportion of newborns ...of hearing impairment in the Chinese ...of ...
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Investigating Seven Recently Identified Genes in 100 Iranian Families with Autosomal Recessive Non-syndromic Hearing Loss
... disorders, peripheral neuropathy and cardiovascular disease. Lopez et al. detected a deletion (c.154del4) in GJB4 that causes a frameshift in 2002.[9] In 2007, Yang et al. studied 380 Taiwanese. Among them, 260 had ...
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Skin Diseases and Non-Syndromic Hearing Loss Linked to Cx30 Mutations Arise Through Several Distinct Mechanisms
... to hearing loss and/or various skin ...to non-syndromic hearing loss formed functional gap junction channels and hemichannels, similar to wild-type ...The loss-of-function ...
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Investigation of LRTOMT gene (locus DFNB63) mutations in Iranian patients with autosomal recessive non-syndromic hearing loss
... Hearing loss (HL) is the most frequent sensory defect affecting 1 in 1000 neonates. This can occur due to genetic or environmental causes or both. The genetic causes are very heterogenous and over 100 loci ...
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Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations
... recessive non-syndromic hearing loss (ARNSHL) is the most common hereditary type of hearing impairment and more than 700 differ- ent causative mutations have been identified in over 80 ...
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The Association Between GJB2 Mutation and GJB6 Gene in Non Syndromic Hearing Loss School Children
... of non-syndromic hearing ...the hearing impairment due to the association between GJB2 mutation and GJB6 deletion is not a digenism, but a position effect with deletions of a regulatory ...
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Copy number variants are a common cause of non-syndromic hearing loss
... Liquid-handling automation equipment was used to pre- pare the majority of libraries. We used OtoSCOPE v4 or v5, targeting 66 or 89 deafness-associated genes, respect- ively. We used v4 for 76 and v5 for 28 of the ...
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Mutation Analysis of GJB2 and GJB6 Genes and the Genetic Linkage Analysis of Five Common DFNB Loci in the Iranian Families with Autosomal Recessive Non-Syndromic Hearing Loss
... 14. Del Castillo I., Moreno-Pelayo, M. A., Del Castillo, F. J., Brownstein, Z., Marlin, S., Adina, Q., Cockburn, D. J., Pandya, A., Siemering, K. R., Chamberlin, G. P , . Ballana, E., Wuyts, W., Maciel-Guerra, A. T., ...
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Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations
... Mutations in its corresponding gene (i.e. SLC26A4) are the second most common cause of ARNSHL, after GJB2, all over the world (13). About 5% of ARNSHL cases in South Asia have been related to SLC26A4 mutations (14). ...
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Deafness mutation mining using regular expression based pattern matching
... DFNA1 Diaphonous gene mutation associated with autosomal dominant non-syndromic hearing loss 9 DFNA10 Mutation in EYA4 causes late onset deafness 10 DFNA11 MYO7A mutation that results in[r] ...
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Hearing loss: A review on molecular genetics and epidemiologic aspects
... are non Syndromic (NSHL) without anomaly, whereas the remaining 30% are ...recessive non-syndromic hearing loss forms (ARNSHL) are the severest forms of congenital HL with defect ...
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Review Article c-Ret-mediated hearing losses
... (early-onset) hearing loss. Thirty per- cent of them have syndromic hearing loss and the remaining 70% have non-syndromic hearing ...onset) hearing ...
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Specific Distribution of GJB2 Mutations in Kurdistan Province of Iran; Report of a Relatively Isolated Population
... Hearing Loss (HL) represents high genetic heterogeneity with an incidence of almost 1 out of 500 newborns in most ...recessive non-syndromic (ARNSHL) with DFNB1-related defect in many ...
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Pediatric Sensorineural Hearing Loss, Part 2: Syndromic and Acquired Causes
... in non-tissue-specific antibody titers (anti- nuclear antibody, antineutrophil cytoplasmic antibody, anti- endothelial cell ...mune hearing loss include Cogan syndrome, systemic lupus erythematosus, ...
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Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss
... However, although the other genes have not been as- sociated with any of the observed pathological traits, we cannot exclude that the encoded proteins may interact with known disease-causing genes. Interestingly, brows- ...
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Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
... both syndromic and non-syndromic forms, were ...to hearing defects (Additional file ...ing Loss Homepage; last accessed 19/09/2017) to identify those fulfilling the following criteria: ...
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Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families
... editary hearing loss shows distinct spectrums and preva- lence of mutations in different ethnic groups ...genetic hearing loss in Caucasian popula- tions but only 10% of genetic hearing ...
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Insights into the role of connexin26 and connexin30 in skin health, syndromic disease, and cutaneous wound healing
... disease, hearing impairments, or both, and some mutations lead to more profound disease than others (Lee and White, ...to syndromic pathologies displaying severe skin disease and hearing impairments ...
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Manipulation of Auditory Feedback in Individuals with Normal Hearing and Hearing Loss
... with hearing aids varied in degree and configuration of hearing ...the hearing aid users by degree of hearing loss: mild, moderate, and ...by hearing loss (mediated by the ...
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Associations Between Hearing Performance and Physiological Measures - An Overview and Outlook
... regarding hearing loss and hearing ...with hearing loss or hearing ...to hearing loss and hearing ...
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