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Article

Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment.

The Journal of molecular diagnostics : JMD - 1 Nov 2023

Chiang Yu-Ting, Lin Pei-Hsuan, Lo Ming-Yu, Chen Hsin-Lin, Lee Chen-Yu, Tsai Cheng-Yu, Lin Yin-Hung, Tsai Shih-Feng, Liu Tien-Chen, Hsu Chuan-Jen, Chen Pei-Lung, Hsu Jacob Shu-Jui, Wu Chen-Chi

Abstract excerpt

Recessive variants in GJB2 are the most important genetic cause of sensorineural hearing impairment (SNHI) worldwide. Phenotypes vary significantly in GJB2-related SNHI, even in patients with identical variants. For instance, patients homozygous for the GJB2 p.V37I variant, which is highly prevalent in the Asian populations, usually present with mild-to-moderate SNHI; yet severe-to-profound SNHI is occasionally...

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PMID: 37683890
DOI: 10.1016/j.jmoldx.2023.07.005

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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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