A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family.

doi:10.1002/jcla.22444

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Article

A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family.

Journal of clinical laboratory analysis - 1 Sept 2018

Shi Xi, Zhang Yan, Qiu Shiwei, Zhuang Wei, Yuan Na, Sun Tiantian, Gao Jian, Qiao Yuehua, Liu Ke

Abstract excerpt

OBJECTIVE: To investigate whether a novel compound heterozygous mutations c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) in GJB2 result in hearing loss. METHODS: Allele-specific PCR-based universal array (ASPUA) screening and sequence analysis were applied to identify these mutations. 3D model was built to perform molecular dynamics (MD) simulation to verify the susceptibility of the mutations. Furthermore, WT- and...

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Identifiers

PMID: 29665173
DOI: 10.1002/jcla.22444
PMCID: PMC6817138

Genes

GJB2

Variants

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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.