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Article

A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family.

PloS one - 1 Jan 2014

Zhao Yali, Wang Dayong, Zong Liang, Zhao Feifan, Guan Liping, Zhang Peng, Shi Wei, Lan Lan, Wang Hongyang, Li Qian, Han Bing, Yang Ling, Jin Xin, Wang Jian, Wang Jun, Wang Qiuju

Abstract excerpt

Mutations in the transmembrane channel-like gene 1 (TMC1) can cause both DFNA36 and DFNB7/11 hearing loss. More than thirty DFNB7/11 mutations have been reported, but only three DFNA36 mutations were reported previously. In this study, we found a large Chinese family with 222 family members showing post-lingual, progressive sensorineural hearing loss which were consistent with DFNA36 hearing loss. Auditory...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 24827932
DOI: 10.1371/journal.pone.0097064
PMCID: PMC4020765

Genes

TMC1
ABR

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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