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Article

A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.

BMC medical genetics - 24 Mar 2017

Huang Bangqing, Liu Yanping, Gao Xue, Xu Jincao, Dai Pu, Zhu Qingwen, Yuan Yongyi

Abstract excerpt

BACKGROUND: Hereditary non-syndromic hearing loss is the most common inherited sensory defect in humans. The KCNQ4 channel belongs to a family of potassium ion channels that play crucial roles in physiology and disease. Mutations in KCNQ4 underlie deafness non-syndromic autosomal dominant 2, a subtype of autosomal dominant, progressive, high-frequency hearing loss. METHODS: A six-generation Chinese family from...

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Source

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Identifiers

PMID: 28340560
DOI: 10.1186/s12881-017-0396-5
PMCID: PMC5366164

Genes

KCNQ4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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