The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss
The c.981C>G (p.Ile327Met) variant contributes to HL pathogenesis through dual mechanisms involving impaired gene expression and filament destabilisation. This study highlights the clinical relevance of variant location relative to ABP binding regions and provides new insights into genotype-phenotype relationships in <i>ACTG1</i>-associated HL.
Authors
- Lingyun Mei (ORCID: https://orcid.org/0000-0003-3034-3322)
- Sijun Li (ORCID: https://orcid.org/0000-0003-3859-0598)
- Yong Feng (ORCID: https://orcid.org/0000-0003-3824-3780)
- Shuai Zhang (ORCID: https://orcid.org/0000-0001-5046-5023)
- Xuewen Wu (ORCID: https://orcid.org/0000-0001-7271-7965)
- Jian Song (ORCID: https://orcid.org/0000-0001-6767-2643)
- Qi Feng (ORCID: https://orcid.org/0000-0001-6810-7363)
Institutions
- North Sichuan Medical University (CN)
- Central South University (CN)
- Hunan Provincial Center for Disease Control and Prevention (CN)
- Affiliated Hospital of North Sichuan Medical College (CN)
- Xiangya Hospital Central South University (CN)
- University of South China (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-06-17
- DOI
- https://doi.org/10.1136/jmg-2024-110573
- Primary Topic
- RNA Research and Splicing
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Hunan Province
- Major State Basic Research Development Program of China
- Key Research and Development Program of Hunan Province of China
- National Key Research and Development Program of China
- Fundamental Research Funds for Central Universities of the Central South University