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Article

Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.

Genetic testing and molecular biomarkers - 1 Jan 2015

Qing Jie, Zhou Yuan, Lai Ruosha, Hu Peng, Ding Yan, Wu Weijing, Xiao Zian, Ho Phi T, Liu Yuyuan, Liu Jia, Du Lilin, Yan Denise, Goldstein Bradley J, Liu Xuezhong, Xie Dinghua

Abstract excerpt

AIM: To study the distribution characteristics of common mutations in the GJB2, SLC26A4, and mtDNA genes in children with severe or profound sensorineural hearing loss (SNHL) in southwestern China. MATERIALS AND METHODS: A total of 1,164 individuals were recruited to screen for the common GJB2, SLC26A4, and mtDNA mutations by microarrays. Subsequencing for the coding region of the GJB2 gene in the samples without...

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Identifiers

PMID: 25493717
DOI: 10.1089/gtmb.2014.0241
PMCID: PMC4278079

Genes

GJB2
TRMU

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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