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XB-ART-13502
Cell. February 5, 1999; 96 (3): 437-46.

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

Kubisch C , Schroeder BC , Friedrich T , L├╝tjohann B , El-Amraoui A , Marlin S , Petit C , Jentsch TJ .


Abstract
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.

PubMed ID: 10025409
Article link: Cell.

Genes referenced: gjb3 kcnq1 kcnq4
Antibodies referenced:
Morpholinos referenced:

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