Identification of a new CD46 gene mutation site in a family with atypical hemolytic uremic syndrome
In our study, a novel mutation in the CD46 gene (c.1127 + 2T > A) was identified via WES and confirmed to affect the transcription and translation of CD46, thereby contributing to the pathogenesis of aHUS. This finding broadens the spectrum of CD46 gene variants associated with aHUS, providing a critical basis for clinical diagnosis, genetic counseling, and treatment.
Authors
- Hongchuan Zhang
- Xiaohua Guo (ORCID: https://orcid.org/0000-0001-8888-4493)
- Dongdong Mei
- Xian Wang (ORCID: https://orcid.org/0000-0003-0041-7589)
- Xiaowei Li (ORCID: https://orcid.org/0000-0002-0718-1938)
- Xu Wang (ORCID: https://orcid.org/0000-0003-1094-1843)
- Benjin Hu
Institutions
- Anhui Medical University (CN)
- Anhui Science and Technology University (CN)
- Southern Medical University Shenzhen Hospital (CN)
- Fuyang Second People's Hospital (CN)
Publication Details
- Journal
- BMC Nephrology
- Published
- 2025-09-22
- DOI
- https://doi.org/10.1186/s12882-025-04458-9
- Citations
- 1
- Primary Topic
- Complement system in diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.80