INTRODUCTIONTMC1 mutations have recently been found to be one of the major causes of profound recessive deafness worldwide (Ayesha et al., ). In humans, most TMC1 mutations are recessive mutations associated with congenital non‐syndromic severe to profound deafness DFNB7/11, whereas dominant alleles of TMC1 were reportedly associated with progressive loss of hearing DFNA36 (Kitajiri et al., ). Until now, there were 84 definite pathogenic sites of TMC1 reported in HGMD (http://www.hgmd.cf.ac.uk/ac/index.php); the pathogenicity of most of them was determined by a consanguineous marriage pedigree study, which showed a sporadic phenomenon. In this study, we discovered that a single site of TMC1 (c.2050G>C) from sporadic families in one region had a high incidence; single nucleotide polymorphisms (SNPs) were used to identify its founder effect.The TMC1 gene has 24 exons and spans 314,551 base pairs on chromosome 9q21.13. The protein, which functions as an ion channel or transporter to mediate K+ homeostasis for the normal function of cochlear hair cells, consists of 760 amino acids containing six transmembrane (TM) domains (Xue et al., ). TMC1 c.2050G>C (p.D684H) is a missense variant in exon21. We used TMHMM2.0 to predict the structure of the TMC1 protein, including its six TMs with cytoplasmic N‐
American Journal of Medical Genetics – Wiley
Published: Jan 1, 2018
Keywords: ; ; ;
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