Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy
This report describes the first documented case of the GLA c.522T>G (p.Cys174Trp) variant, expanding the mutational spectrum of FD in East Asians. The coexistence of ESRD and cardiac hypertrophy should prompt clinicians to consider GLA screening, particularly in females with atypical presentations.
Authors
- Lei Li (ORCID: https://orcid.org/0000-0001-8723-3461)
- Yinglu Hao
- Yanping Li
- Tianyu Chang
- Xichen Li
- Min Deng
Institutions
- Kunming Medical University (CN)
- Qujing Normal University (CN)
- Sixth Affiliated Hospital of Kunming Medical University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2026-01-08
- DOI
- https://doi.org/10.3389/fgene.2025.1664286
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- China Health Promotion Foundation