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Article

Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree.

Journal of cellular and molecular medicine - 1 Jan 2024

Cheng Jingliang, Li Ting, Tan Qi, Fu Jiewen, Zhang Lianmei, Yang Luquan, Zhou Baixu, Yang Lisha, Fu Shangyi, Linehan Alora Grace, Fu Junjiang

Abstract excerpt

Nonsyndromic hearing loss (NSHL) is a genetically diverse, highly heterogeneous condition characterised by deafness, and Gasdermin E (GSDME) variants have been identified as directly inducing autosomal dominant NSHL. While many NSHL cases associated with GSDME involve the skipping of exon 8, there is another, less understood pathogenic insertion variant specifically found in Chinese pedigrees that causes...

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Identifiers

PMID: 37864300
DOI: 10.1111/jcmm.18004
PMCID: PMC10805510

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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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