Article
A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency.
The journal of gene medicine - 1 Feb 2022
Hu Ya-Nan, Gan Yu-Mian, Zhang Yan-Ping, Ruan Dan-Dan, Zhu Yao-Bin, Lin Xin-Fu, Fang Zhu-Ting, Liao Li-Sheng, Tang Fa-Qiang, Luo Jie-Wei
Abstract excerpt
BACKGROUND: Hereditary factor VII deficiency (FVIID) is a rare congenital autosomal recessive bleeding disorder. In clinical manifestations, its onset is caused by variant of the F7 gene (NM_019616) with strong heterogeneity. We identified a family with hematuria caused by a novel F7 compound heterozygous variant and investigated the FVIID-dependent mechanism impacted by these variants. METHODS: Coagulation...
Topics
- Factor VII
- Factor VII Deficiency
- Female
- Hematuria
- Humans
- Male
- Mutation
- Mutation, Missense