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Article

M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.

American journal of medical genetics. Part A - 1 Nov 2007

Pollak Agnieszka, Skórka Agata, Mueller-Malesińska Małgorzata, Kostrzewa Grazyna, Kisiel Bartłomiej, Waligóra Jarosław, Krajewski Paweł, Ołdak Monika, Korniszewski Lech, Skarzyński Henryk, Ploski Rafal

Abstract excerpt

Despite research the role of the M34T and V37I variants of GJB2 in causing hearing impairment (HI) remains controversial. Our purpose was to test a hypothesis that M34T and V37I are pathogenic but have distinct features resulting in a reduced penetrance. We screened for known GJB2/GJB6 mutations 233 Polish consecutive unrelated subjects with non-syndromic, sensorineural HI who were previously found to carry...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17935238
DOI: 10.1002/ajmg.a.31982

Genes

GJB2
GJB6

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.

Related research

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Click a neighbor to travelStep 1 · 12 closest

M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.PMID 17935238Read ↗

Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity.Semantic proximity Read ↗

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.Semantic proximity Read ↗

The homozygous p. V37I variant of GJB2 is associated with diverse hearing phenotypesSemantic proximity Read ↗

GJB2 p.V37I Mutation Associated With Moderate Nonsyndromic Hearing Loss in an Adult Taiwanese Population.Semantic proximity Read ↗

Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.Semantic proximity Read ↗

Consensus interpretation of the Met34Thr and Val37Ile variants in <i>GJB2</i> by the ClinGen Hearing Loss Expert PanelSemantic proximity Read ↗

V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.Semantic proximity Read ↗

Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.Semantic proximity Read ↗

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.Semantic proximity Read ↗

Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment.Semantic proximity Read ↗

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

Genotype-guided Recall Delineates the Adult Auditory Phenotype in GJB2 p.V37I Homozygotes: High-frequency Vulnerability and Environmental Modulation.Semantic proximity Read ↗

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