Cell 1999 Feb 05;963:437-46. doi: 10.1016/s0092-8674(00)80556-5.

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.

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Potassium channels regulate electrical signaling and the ionic composition of biological fluids. Mutations in the three known genes of the KCNQ branch of the K+ channel gene family underlie inherited cardiac arrhythmias (in some cases associated with deafness) and neonatal epilepsy. We have now cloned KCNQ4, a novel member of this branch. It maps to the DFNA2 locus for a form of nonsyndromic dominant deafness. In the cochlea, it is expressed in sensory outer hair cells. A mutation in this gene in a DFNA2 pedigree changes a residue in the KCNQ4 pore region. It abolishes the potassium currents of wild-type KCNQ4 on which it exerts a strong dominant-negative effect. Whereas mutations in KCNQ1 cause deafness by affecting endolymph secretion, the mechanism leading to KCNQ4-related hearing loss is intrinsic to outer hair cells.

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Species referenced: Xenopus laevis
Genes referenced: gjb3 kcnq1 kcnq4
GO keywords: voltage-gated potassium channel activity

???displayArticle.disOnts??? autosomal dominant nonsyndromic deafness 2A
???displayArticle.omims??? DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A