Open AccessNovel heterozygous F7 gene mutation (c. C1286T) associated with congenital factor VII deficiency: A case report and literature review
Author(s) -
Tang Hua,
Luan Xingzhao,
Li Jiaqi,
Jiang Gen,
Zhen Haowen,
Li Hao,
Xiang Wei,
Zhou Jie
Publication year - 2022
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.24349
Subject(s) - coagulation , coagulation disorder , factor vii , mutation , medicine , compound heterozygosity , recombinant factor viia , gene mutation , heterozygote advantage , clotting factor , gene , genetics , endocrinology , biology , genotype
Background Congenital factor VII (FVII) deficiency is a rare inherited autosomal recessive disorder characterized by prolongation of prothrombin time and low FVII coagulation activity, which may increase the risk of bleeding. Case presentation A 66‐year‐old man with acute postoperative intracranial hemorrhage was transferred to our hospital owing to coagulation dysfunction. In coagulation tests, the FVII coagulation activity was less than 2%. Genetic analysis of the gene encoding FVII identified compound heterozygous mutations: c. 681+1 G>T and c. C1286T (p. Ala429Val). Conclusions To our knowledge, this is the first report describing the c. C1286T (p. Ala429Val) mutation in the FVII‐encoding gene. We suggest that these mutations resulted in the reduced FVII activity and abnormal clotting in our patient after brain surgery.