A novel dinucleotide variant at 5′ splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A
The c.6115+5_6115+6delinsAG variant in the <i>F8</i> gene is considered to be responsible for hemophilia A in this family. This dinucleotide variant located at 5'ss of the gene is initially reported. Our study has expanded the mutation spectrum of <i>F8</i> and provided a basis for prenatal and clinical diagnosis.
Authors
- Qiuli Chen (ORCID: https://orcid.org/0000-0001-8531-6175)
- Sheng Yi (ORCID: https://orcid.org/0000-0002-2130-7701)
- Dahua Meng
- Zailong Qin (ORCID: https://orcid.org/0000-0001-7109-6693)
- Qi Yang (ORCID: https://orcid.org/0000-0003-1899-0586)
- Jingsi Luo (ORCID: https://orcid.org/0000-0003-2289-7309)
- Shujie Zhang (ORCID: https://orcid.org/0000-0003-4880-9856)
- Xunzhao Zhou
- Shengkai Wei
Institutions
- Guangxi Maternal and Child Health Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-10-16
- DOI
- https://doi.org/10.3389/fgene.2025.1686184
- Primary Topic
- Hemophilia Treatment and Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Guangxi Province
- Natural Science Foundation for Young Scientists of Shanxi Province
- Young Scientists Fund