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Article

Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.

Journal of cellular and molecular medicine - 1 Jun 2020

Bai Xiaohui, Zhang Fengguo, Xiao Yun, Jin Yu, Zheng Qingyin, Wang Haibo, Xu Lei

Abstract excerpt

Autosomal dominant non-syndromic hearing loss is genetically heterogeneous with 47 genes identified to date, including POU4F3. In this study, by using a next-generation sequencing panel targeting 127 deafness genes, we identified a pathogenic frameshift mutation c.704_705del and a missense mutation c.593G>A in two three-generation Chinese families with late-onset progressive ADNSHL, respectively. The novel...

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Identifiers

PMID: 32390314
DOI: 10.1111/jcmm.15359
PMCID: PMC7299729

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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