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[Analysis of clinical phenotypes and GJB2 gene mutations in families affected with hearing loss from southern Zhejiang].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2017

Xu Chenyang, Xiang Yanbao, Chen Chong, Lin Xiaoling, Li Huanzheng, Lu Jinfang, Hu Lin, Xu Xueqin, Tang Shaohua

Abstract excerpt

OBJECTIVE: To analyze the clinical features and pathological mutations in 44 families affected with hearing loss from southern Zhejiang, and to provide genetic counseling and prenatal diagnosis for 6 of the families. METHODS: Microarray was employed to detect c.35delG, c.176del16, c.235delC and c.299-300delAT mutations of the GJB2 gene among 228 patients. For those carrying a single heterozygous mutation, the...

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Identifiers

PMID: 28777850
DOI: 10.3760/cma.j.issn.1003-9406.2017.04.011

Genes

GJB2

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Source receipt: pubmed, retrieved 7 Sept 2026.

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