title: The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians.
abstract: TMC1, a second-tier deafness gene below GJB2, is an appreciable cause of recessive nonsyndromic hearing loss (DFNB7/11) in North Africa, the Middle East, and parts of South Asia. Additionally, a single founder mutation, c.100C>T (p.Arg34X), dominates the TMC1 mutation spectrum. We investigated the frequency of TMC1 c.100C>T in a large set of British Asians with hearing loss, collectively a group with high prevalence of genetic deafness and limited routine clinical testing options beyond GJB2, on a candidate basis. An estimate of 0.21% (95% confidence interval, 0.04%-1.18%) was gained, indicating no significant enrichment in our set. Identification of the common non-GJB2 deafness genes and mutations in British Asian communities would require data from autozygosity mapping and/or massively parallel sequencing of gene panels.
authors.affiliation: Clinical Genetics, Yorkshire Regional Genetics Service, Leeds, United Kingdom.
authors.forename: Claire
authors.initials: C
authors.lastname: Searle
authors.forename: Lampros A
authors.initials: LA
authors.lastname: Mavrogiannis
authors.forename: Christopher P
authors.initials: CP
authors.lastname: Bennett
authors.forename: Ruth S
authors.initials: RS
authors.lastname: Charlton
mesh_terms: D044466:Asian People / Q000235:genetics*; D000072259:Connexin 26; D017630:Connexins; D003638:Deafness / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D015995:Prevalence; D006113:United Kingdom / Q000208:ethnology
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D008565:Membrane Proteins; C451751:TMC1 protein, human; D000072259:Connexin 26