A novel non-sense variant in GSDME causing exon skipping associated with DFNA5 in a large Chinese family
Our findings expand the <i>GSDME</i> 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 <i>GSDME</i>-associated hearing loss and emphasizes the necessity of functional validation for accurate variant interpretation.
Authors
- Bingqian Yang (ORCID: https://orcid.org/0000-0003-4748-0921)
- Mingwan Zhu
- Xicui Long (ORCID: https://orcid.org/0000-0001-9728-7842)
- Lu Yin (ORCID: https://orcid.org/0000-0002-5075-5263)
- Hao Yuan (ORCID: https://orcid.org/0000-0003-2573-7669)
- Siwei Wan
- Qingquan Hua
Institutions
- Sichuan University (CN)
- Wuhan University (CN)
- West China Hospital of Sichuan University (CN)
- Renmin Hospital of Wuhan University (CN)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2026-02-06
- DOI
- https://doi.org/10.3389/fneur.2026.1752843
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.00