Clinical phenotype and variantal analysis of a pedigree affected with hereditary coagulation factor V deficiency.
10.3760/cma.j.issn.1003-9406.2020.04.015
- Author:
Fengyu CHE
1
;
Wendi HUANG
;
Ying YANG
;
Guoxia WANG
;
Liyu ZHANG
;
Ruobing LIANG
;
Jiangang ZHAO
Author Information
1. Shaanxi Institute of Pediatric Diseases, Xi'an Children's Hospital, Xi'an, Shaanxi 710002, China. 38821506@qq.com.
- Publication Type:Case Reports
- MeSH:
Aged;
Factor V;
Factor V Deficiency;
genetics;
Genetic Variation;
Heterozygote;
Humans;
Male;
Mutation;
Pedigree;
Phenotype
- From:
Chinese Journal of Medical Genetics
2020;37(4):427-430
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the molecular basis for a pedigree affected with coagulation factor V (FV) deficiency.
METHODS:Clinical data of the patient and his family members was analyzed. Targeted capture and next-generation sequencing (NGS) and Sanger sequencing were carried out to detect potential variant of the FV gene.
RESULTS:The patient presented with jaundice and prolonged prothrombin time (PT) and activated partial thromboplastic time (APTT). V factor activity measured only 0.1% of the normal level, though the patient had no sign of bleeding. A paternal heterozygous variant c.653T>C (p.F218S) and a maternal heterozygous variant c.3642_3643del (p.P1215Rfs*175) were identified in the FV gene of the patient. His elder brother was a heterozygous carrier of the c.653T>C (p.F218S) variant. c.653T>C(p.F218S) was a known pathogenic variant, while the c.3642_3643del (p.P1215Rfs*175) variant was unreported previously.
CONCLUSION:Mutations of the FV gene probably underlie the hereditary coagulation factor V deficiency in this patient. NGS combined with Sanger sequencing has detected potential variant with efficiency and provided a reliable basis for clinical and prenatal diagnosis for this family.
