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Article

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.

Human mutation - 1 Jul 2002

Van Camp Guy, Coucke Paul J, Akita Jiro, Fransen Erik, Abe Satoko, De Leenheer Els M R, Huygen Patrick L M, Cremers Cor W R J, Usami Shin-Ichi

Abstract excerpt

Several different mutations in the KCNQ4 K+ channel gene are responsible for autosomal dominant nonsyndromic hearing impairment (DFNA2). Here we describe two additional families originating from Europe and Japan with a KCNQ4 missense mutation (W276S) that was previously found in one European fami...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12112653
DOI: 10.1002/humu.10096

Genes

KCNQ4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12112653-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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