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Article

A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A.

Molecular medicine reports - 1 Jun 2021

Li Qiong, Liang Pengfei, Wang Shujuan, Li Wei, Wang Jian, Yang Yang, An Xiaogang, Chen Jun, Zha Dingjun

Abstract excerpt

Deafness is one of the most common sensory disorders found in humans; notably, >60% of all cases of deafness have been attributed to genetic factors. Variants in potassium voltage‑gated channel subfamily Q member 4 (KCNQ4) are etiologically linked to a type of progressive hearing loss, deafness non‑syndromic autosomal dominant 2A (DFNA2A). In the present study, whole‑exome sequencing (WES) was performed on three...

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Identifiers

PMID: 33846771
DOI: 10.3892/mmr.2021.12059
PMCID: PMC8025472

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