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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Kubisch, C., Schroeder, B.C., Friedrich, T., Lütjohann, B., El-Amraoui, A., Marlin, S., Petit, C., Jentsch, T.J. Cell (1999) [Pubmed]
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