Clinical and genetic analyses of hereditary factor Ⅴ deficiency cases
10.3760/cma.j.issn.0253-2727.2021.04.006
- VernacularTitle:遗传性凝血因子Ⅴ缺乏症九例基因分析
- Author:
Donglei ZHANG
1
;
Feng XUE
;
Xueqing DOU
;
Xiaofan LIU
;
Rongfeng FU
;
Yunfei CHEN
;
Wei LIU
;
Yujiao JIA
;
Yuhua WANG
;
Zhijian XIAO
;
Lei ZHANG
;
Renchi YANG
Author Information
1. 中国医学科学院血液病医院（中国医学科学院血液学研究所），实验血液学国家重点实验室，国家血液系统疾病临床医学研究中心，天津 300020
- Keywords:
Coagulation factor Ⅴ;
F5 gene;
Mutation;
High-throughput sequencing
- From:
Chinese Journal of Hematology
2021;42(4):302-307
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical phenotype and molecular pathogenesis of nine patients with hereditary factor Ⅴ (FⅤ) deficiency.Methods:Nine patients with hereditary FⅤ deficiency who were admitted to the Institute of Hematology and Blood Diseases Hospital from April 1999 to September 2019 were analyzed. The activated partial thromboplastin time, prothrombin time, and FⅤ procoagulant activity (FⅤ∶C) were measured for phenotypic diagnosis. High-throughput sequencing was employed for the F5 gene mutation screening, Sanger sequencing was adopted to confirm candidate variants and parental carrying status, Swiss-model was used for three-dimensional structure analysis, and ClustalX v.2.1 was used for homologous analysis.Results:The FⅤ∶C of the nine patients ranged from 0.1 to 10.6. Among them, eight had a hemorrhage history, with kin/mucosal bleeding as the most common symptom (three cases, 37.5%) , whereas one case had no bleeding symptom. There were five homozygotes and four compound heterozygotes. A total of 12 pathogenic or likely pathogenic mutations were detected, of which c.6100C>A/p.Pro2034Thr, c.6575T>C/p.Phe2192Ser, c.1600_1601delinsTG/p. Gln534*, c.4713C>A/p.Tyr1571*, and c.952+5G>C were reported for the first time.Conclusion:The newly discovered gene mutations enriched the F5 gene mutation spectrum associated with hereditary FⅤ deficiency. High-throughput sequencing could be an effective method to detect F5 gene mutations.
