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Article

Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations.

Human genetics - 1 Dec 2025

Chin Joseph J, Walls W Daniel, Wang Kai, Odell Amanda M, Kolbe Diana L, Booth Kevin T A, Azaiez Hela, Smith Richard J H

Abstract excerpt

Despite advances in the genetic diagnosis of hearing loss, there remains room for improvement. One way to improve the genetic diagnostic rate is the proper assessment of synonymous variants that are often bioinformatically filtered out. We used GSDME as a model to demonstrate the importance of assessing synonymous variants. Variants in the gene GSDME (also known as DFNA5) are associated with autosomal dominant...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41020988
DOI: 10.1007/s00439-025-02782-6
PMCID: PMC12689683

Genes

GSDME

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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