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Article

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

Genetic testing and molecular biomarkers - 1 May 2012

Searle Claire, Mavrogiannis Lampros A, Bennett Christopher P, Charlton Ruth S

Abstract excerpt

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...

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Source

Identifiers

PMID: 22288896
DOI: 10.1089/gtmb.2011.0254

Genes

TMC1
GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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