The heterozygous mutation COL4A4 c.817-1G>A causes Alport syndrome in a Chinese family: a case report
Our study finds that the <i>COL4A4</i> c.817-1G > A variant may cause autosomal dominant Alport syndrome. Our research expands the mutation spectrum of Alport syndrome while aiding in genetic counseling and diagnosis for affected patients.
Authors
- Panjian Lai
- Pengfei Yu (ORCID: https://orcid.org/0000-0002-3894-5697)
- Kaichao Cheng
- Lanjin Zheng
- Xiaobing Li (ORCID: https://orcid.org/0000-0001-5961-2114)
- Dayan Wang (ORCID: https://orcid.org/0000-0002-4990-1016)
Institutions
- Northwest Women's and Children's Hospital (CN)
- Jinhua Academy of Agricultural Sciences (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-05-08
- DOI
- https://doi.org/10.3389/fped.2025.1533638
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00