Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population
The c.-259T > C mutation decreases promoter activity, while the c.88 C > T (p.Q30*) mutation reduces GNE expression and affects TDP-43 distribution, thus affecting normal cellular function. The p.D207V mutation is the most common GNE variant in China and is associated with milder disease progression.
Authors
- Qiyun Liu (ORCID: https://orcid.org/0009-0009-9545-7962)
- Xueli Chang
- Lingqian Zhao
- Wei Zhang (ORCID: https://orcid.org/0000-0003-4434-5599)
- Juan Wang (ORCID: https://orcid.org/0000-0002-5066-0926)
- Le Wang (ORCID: https://orcid.org/0000-0002-6825-6614)
- Runze Zhao (ORCID: https://orcid.org/0000-0001-5514-1650)
- Junhong Guo (ORCID: https://orcid.org/0000-0002-1297-4414)
- Rongjuan Zhao
- Yingming Xing
Institutions
- Shanxi Medical University (CN)
- First Hospital of Shanxi Medical University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-04-05
- DOI
- https://doi.org/10.1186/s13023-025-03696-2
- Citations
- 3
- Primary Topic
- Inflammatory Myopathies and Dermatomyositis
- Type
- article
- Field-Weighted Citation Impact
- 4.06
Funders
- National Natural Science Foundation of China
- ShanXi Science and Technology Department