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Background  Autosomal recessive non-syndromic hearing loss (ARNSHL) is highly heterogeneous, and mutations in the gene encoding transmembrane channel-like 1 (TMC1) have been implicated in its development. To date, 35 homozygous mutations in  TMC1 , identified in over 60 families worldwide, have been shown to be associated with ARNSHL. However, few of these mutations were detected in the Chinese population. In this study, we describe a pathogenic missense mutation located in the T5–T6 domain of  TMC1  in a three-generation Chinese family with 14 members.    Methods  Whole exome sequencing was performed using samples from one unaffected individual and two affected individuals to systematically search for deafness susceptibility genes. Candidate mutations and cosegregation of the phenotype were verified by polymerase chain reaction and Sanger sequencing in all of the family members.    Results  We identified a novel  TMC1  mutation in exon 20, c.1979C>T, p.P660L, which segregated with prelingual autosomal recessive sensorineural hearing loss.    Conclusions  We found a new missense mutation in the T5–T6 domain of  TMC1 , which is highly conserved in many species. These data support the potential conserved role of p.P660L in human  TMC1  function.    Electronic supplementary material  The online version of this article (doi:10.1186/s12967-016-0780-5) contains supplementary material, which is available to authorized users.

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss