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Article

Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.

PloS one - 1 Jan 2014

Wang Hongyang, Zhao Yali, Yi Yuting, Gao Yun, Liu Qiong, Wang Dayong, Li Qian, Lan Lan, Li Na, Guan Jing, Yin Zifang, Han Bing, Zhao Feifan, Zong Liang, Xiong Wenping, Yu Lan, Song Lijie, Yi Xin, Yang Ling, Petit Christine, Wang Qiuju

Abstract excerpt

Autosomal dominant non-syndromic hearing loss (ADNSHL) is highly heterogeneous, among them, KCNQ4 is one of the most frequent disease-causing genes. More than twenty KCNQ4 mutations have been reported, but none of them were detected in Chinese mainland families. In this study, we identified a novel KCNQ4 mutation in a five generation Chinese family with 84 members and a known KCNQ4 mutation in a six generation...

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Source

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Identifiers

PMID: 25116015
DOI: 10.1371/journal.pone.0103133
PMCID: PMC4130520

Genes

KCNQ4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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