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Article

Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.

Acta oto-laryngologica - 1 Aug 2012

Löppönen Tuija, Dietz Aarno, Väisänen Marja-Leena, Valtonen Hannu, Kosunen Ari, Hyvärinen Antti, Ignatius Jaakko, Löppönen Heikki

Abstract excerpt

CONCLUSION: The genetic and audiological data support the hypothesis that the p.M34T is a pathogenic mutation in the Finnish population. The p.M34T mutation displays an autosomal recessive pattern of inheritance and is associated with mild to moderate nonsyndromic sensorineural hearing impairment (SNHI) in the homozygous state. The audiograms often display a hearing impairment notch at 2-4 kHz in young patients,...

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Source

Identifiers

PMID: 22668073
DOI: 10.3109/00016489.2012.669498

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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