WebSep 9, 2024 · Hearing loss (HL) affects 1–3 newborns per 1000 and, in industrialized countries, recognizes a genetic etiology in more than 80% of the congenital cases. Excluding GJB2 and GJB6, OTOA is one of the leading genes associated with autosomal recessive non-syndromic HL. Allelic heterogeneity linked to OTOA also includes genomic … WebBi-allelic loss-of-function variants of OTOA are a well-known cause of moderate-to-severe hearing loss. Whereas non-allelic homologous recombination-mediated deletions of the gene are well known, gene conversions to pseudogene OTOAP1 have been reported in the literature but never fully described nor their pathogenicity assessed.

OTOA otoancorin - NIH Genetic Testing Registry (GTR) - NCBI

WebNov 5, 2012 · The degree of deafness of the affected individuals in two of these three families has been reported and has been described as being moderate to severe, i.e., similar or slightly more severe than the 35- to 55-dB hearing loss found in the Otoa EGFP/EGFP mouse over the 8- to 55-kHz range. WebDFNB22 is an autosomal recessive hearing disorder that is caused by pathogenic sequence variants in the otoancorin (OTOA) gene, which is located on chromosome 16p12.2 … flipp app download free

Is it time to report carrier state for recessive disorders in every ...

WebDec 1, 2024 · Loss-of-function of OTOA (16p12.2) is a rare cause of non-syndromic prelingual hearing loss. The impairment is usually moderate to profound and the mode of … Webprobands with OTOA-associated hearing loss, so that its prevalence in Japanese patients with autosomal recessive hearing loss was calculated to be 0.3% (7/2262). As novel clinical features identified in this study, the audiometric configurations of patients with OTOA-associated hearing loss were found to be mid-frequency. WebFeb 17, 2014 · 607039 - DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22 Zwaenepoel et al. (2002) searched a collection of 200 large affected families with deafness to determine … greatest hits motown