A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome
This study demonstrates that 38.5% of SNVs in the COL4A5 gene result in aberrant mRNA splicing, which is closely linked to renal function decline in XLAS. Splicing mutations are correlated with more rapid renal progression, highlighting the importance of determining the splicing effects of SNVs during genetic screening for XLAS.
Authors
- Fei Zhao (ORCID: https://orcid.org/0000-0003-3107-1576)
- Sanlong Zhao
- Zhanjun Jia (ORCID: https://orcid.org/0000-0002-3107-0429)
- Bixia Zheng (ORCID: https://orcid.org/0000-0003-3457-6545)
- Haiquan Li (ORCID: https://orcid.org/0000-0002-8049-0278)
- Chunli Wang
- Guixia Ding
- Aihua Zhang (ORCID: https://orcid.org/0000-0001-7438-4404)
- Shengnan Zhang (ORCID: https://orcid.org/0000-0003-1051-7196)
- Wei Zhou (ORCID: https://orcid.org/0000-0001-7719-0859)
- Chunhua Zhu (ORCID: https://orcid.org/0000-0002-6302-4267)
Institutions
- Second Affiliated Hospital of Nanjing Medical University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-06-11
- DOI
- https://doi.org/10.3389/fgene.2025.1564343
- Primary Topic
- RNA Research and Splicing
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China