March 3, 2026Open Access

A novel non-sense variant in GSDME causing exon skipping associated with DFNA5 in a large Chinese family

Key Points

GSDME mutations are linked to altered splicing leading to exon skipping, causing hearing loss.
The study identifies a novel non-sense variant in a large family, highlighting the complexity of genetic hearing impairments.
Functional evidence supports the pathogenic nature of non-sense variants on splicing events in GSDME.
These findings suggest that proper variant interpretation requires rigorous functional validation to guide clinical decisions.

Abstract

Our findings expand the GSDME mutation spectrum and provide functional evidence supporting a pathogenic role for non-sense variants through splicing disruption mechanisms. This study reinforces the potential gain-of-function hypothesis for GSDME-associated hearing loss and emphasizes the necessity of functional validation for accurate variant interpretation.

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