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Article

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

American journal of medical genetics - 31 Jul 2000

Van Hauwe P, Coucke P J, Ensink R J, Huygen P, Cremers C W, Van Camp G

Abstract excerpt

The DFNA2 locus for autosomal dominant nonsyndromic hearing impairment on chromosome 1p34 contains at least 2 genes responsible for hearing loss, GJB3 and KCNQ4. GJB3 is a member of the connexin gene family and KCNQ4 is a voltage-gated potassium channel. KCNQ4 mutations were first found in a French family, and later also in a Belgian, an American and two Dutch families. Here we present the analysis of the GJB3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10925378
DOI: 10.1002/1096-8628(20000731)93:3<184::aid-ajmg4>3.0.co;2-5

Genes

KCNQ4
GJB3

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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