Identification and functional validation of a novel FBN1 variant in a Marfan syndrome family using a zebrafish model
A novel variant was identified in FBN1 gene. In a zebrafish model, we found functional evidence supporting the pathogenicity of the detected nonsense mutation. Our research proposes a possible mechanism underlying the relationship between lipid metabolism and MFS. These findings can help improve the clinical diagnosis and treatment of MFS.
Authors
- Jian Zhuang (ORCID: https://orcid.org/0000-0003-0142-4238)
- Miaoxian Fang
- Liming Lei (ORCID: https://orcid.org/0000-0002-5443-7983)
- Haishan Zhao
- Changjiang Yu (ORCID: https://orcid.org/0000-0001-6395-5814)
- Rui Huang (ORCID: https://orcid.org/0000-0003-4124-3896)
- Jiansong Chen (ORCID: https://orcid.org/0000-0002-2348-5771)
- Ruyue Zhang (ORCID: https://orcid.org/0000-0002-0998-9391)
- Shitong Huang
- Qiuyu Wang (ORCID: https://orcid.org/0009-0006-9422-7223)
Institutions
- Foshan Second People's Hospital (CN)
- Guangdong Academy of Medical Sciences (CN)
- Guangdong Provincial People's Hospital (CN)
- Southern Medical University (CN)
Publication Details
- Journal
- BMC Genomics
- Published
- 2025-03-24
- DOI
- https://doi.org/10.1186/s12864-025-11471-7
- Citations
- 3
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- National Natural Science Foundation of China
- National Key Research and Development Program of China