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

Item Type:Article
Title:KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
Creators Name:Kubisch, C. and Schroeder, B.C. and Friedrich, T. and Luetjohann, B. and El-Amraoui, A. and Marlin, S. and Petit, C. and Jentsch, T.J.
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.
Keywords:Amino Acid Sequence, Chromosome Mapping, Molecular Cloning, Complementary DNA, Inner Ear, Gene Expression Regulation, Dominant Genes, Outer Auditory Hair Cells , Sensorineural Hearing Loss, KCNQ Potassium Channels, Molecular Sequence Data, Mutation, Oocytes, Pedigree, Voltage-Gated Potassium Channels, Animals, Mice, Xenopus Laevis
Source:Cell
ISSN:0092-8674
Publisher:Cell Press (U.S.A.)
Volume:96
Number:3
Page Range:437-446
Date:5 February 1999
Official Publication:https://doi.org/10.1016/S0092-8674(00)80556-5
PubMed:View item in PubMed

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