The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians

Genet Test Mol Biomarkers. 2012 May;16(5):453-5. doi: 10.1089/gtmb.2011.0254. Epub 2012 Jan 30.

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.

MeSH terms

  • Asian People / genetics*
  • Connexin 26
  • Connexins
  • Deafness / epidemiology
  • Deafness / etiology
  • Deafness / genetics*
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Membrane Proteins / genetics*
  • Mutation*
  • Prevalence
  • United Kingdom / ethnology

Substances

  • Connexins
  • GJB2 protein, human
  • Membrane Proteins
  • TMC1 protein, human
  • Connexin 26