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Article

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.

Human genetics - 1 Apr 2022

Nishio Shin-Ya, Usami Shin-Ichi

Abstract excerpt

TMC1 is a causative gene for both autosomal dominant non-syndromic hearing loss (DFNA36) and autosomal recessive non-syndromic hearing loss (DFNB7/11). To date, 125 pathogenic variants in TMC1 have been reported. Most of the TMC1 variants are responsible for autosomal recessive hearing loss, with only 8 variants reported as causative for DFNA36. Here, we reported the prevalence of TMC1-associated hearing loss in...

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Identifiers

PMID: 34523024
DOI: 10.1007/s00439-021-02364-2
PMCID: PMC9034981

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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