… sensory-neural disorder with excessive clinical and genetic heterogeneity, which negatively
affects life quality. Autosomal recessive non-syndromic … the problem of finding mutations in …

… sensory deficits worldwide, and genetic factors contribute to … TMC1/2 mutant mice have no
mechanosensitive current [6]. … same variants emphasizing that a significant proportion of the …

… of TMC1-associated hearing loss in a large non-syndromic … 12,139 Japanese non-syndromic
sensorineural hearing loss … 10 previously reported mutations and 7 novel variants for TMC1-…

… TMC1 and CDH23 pathogenic variants doubtlessly help in … Also, it seems that DFNB7/11 HL
shows a significant allelic … additional endorsement that mutations in TMC1 and CDH23 play …

… Mutations in TMC1 are responsible for a significant portion of … to define the contribution of
TMC1 mutations in the Saudi … sensorineural hearing loss due to TMC1 mutations. Identified …

Genetic hearing loss is a common sensory disorder, and its cause is highly heterogeneous.
In this study, by targeted next‐generation sequencing of 414 known deafness genes, we …

… ) and autosomal recessive (DFNB7/11) non-syndromic … the two variants contribute to
destabilize the TMC1 protein, we … , the two mutants degraded significantly faster compared to the …

… and dominant nonsyndromic hearing loss (NSHL). To date, … of the TMC1 exon 11 in the
synthetized mutated transcripts (r.… CV and A-FR contributed to the conception and the design of …

… etiology of autosomal recessive non-syndromic deafness (… The genetic diagnosis of ARNSD
is critical as it can help with early … study mutations in GJB2, MYO15A, ESRRB and TMC1 …

… autosomal recessive nonsyndromic hearing loss (ARNSHL). This analysis revealed segregation
of the TMC1 missense mutation … this study suggests that it contributes to a minority of all …