Unraveling <i>CBS</i> Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria
This study identifies the first CBS c.1061_1069del variant and confirms c.1006C>T pathogenicity in China. The findings expand the CBS mutation spectrum, underscore the importance of ethnicity-specific variants, and provide valuable insights for prenatal diagnosis and genetic counseling in Chinese populations.
Authors
- Yilu Lu
- Yongxin Ma (ORCID: https://orcid.org/0000-0003-1550-3615)
- Jingfei Zhang (ORCID: https://orcid.org/0000-0002-6722-1524)
- Dan Yu (ORCID: https://orcid.org/0000-0003-0321-4760)
- Xinyu Lin (ORCID: https://orcid.org/0000-0003-3311-1754)
- Xinmei Liu
- Dachang Tao
Institutions
- Sichuan University (CN)
- West China Medical Center of Sichuan University (CN)
- West China Hospital of Sichuan University (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-08-29
- DOI
- https://doi.org/10.1002/mgg3.70132
- Primary Topic
- Folate and B Vitamins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China