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Article

Molecular basis and restoration of function deficiencies of Kv7.4 variants associated with inherited hearing loss.

Hearing research - 15 Mar 2020

Xia Xin, Zhang Qiansen, Jia Yanyan, Shu Yilai, Yang Juanmei, Yang Huaiyu, Yan Zhiqiang

Abstract excerpt

Deafness non-syndromic autosomal dominant 2 (DFNA2) is characterized by symmetric, predominantly high-frequency sensorineural hearing loss that is progressive across all frequencies. The disease is associated with variants of a potassium voltage-gated channel subfamily Q member 4 gene, KCNQ4 (Kv7.4). Here, we studied nine recently identified Kv7.4 variants in DFNA2 pedigrees, including V230E, E260K, D262V, Y270H,...

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Identifiers

PMID: 31995783
DOI: 10.1016/j.heares.2020.107884

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