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Article

[Hearing phenotype and genotypic characteristics in GSDME-related deafness pedigrees].

Zhonghua yi xue za zhi - 13 Jan 2026

Gao X, Huang S S, Zhao J, Xu J C, Hu L M, Wang W Q, Liu X, Yang J Y, Kang D Y, Yuan Y Y

Abstract excerpt

This retrospective study analyzed three GSDME-related deafness pedigrees diagnosed at the Chinese PLA General Hospital between January 2014 and December 2020. Through whole-exome sequencing and Sanger sequencing validation, all three pedigrees were found to carry splice-site variants causing exon 8 skipping. The patients presented with bilateral, symmetrical, and progressive sensorineural hearing loss, with an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41521057
DOI: 10.3760/cma.j.cn112137-20250729-01890

Genes

GSDME

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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