Genetic analysis of a Chinese pedigree affected with Congenital coagulation factor XII deficiency due to a c.1A>G start codon variant of F12 gene

• Published in: Zhonghua yi xue yi chuan xue za zhi Vol. 40; no. 5; p. 547
• Main Authors: Ji, Weidan, Lin, Sen, Chen, Jie, Jin, Chaojun, Lin, Xiaoyue, Ye, Zhiyuan, Qiu, Lijun, Qian, Dingliang
• Format: Journal Article
• Language: Chinese
• Published: China 10.05.2023
• Subjects: Codon, Initiator; East Asian People; Factor XII - genetics; Factor XII Deficiency - genetics; Female; Humans; Male; Middle Aged; Mothers; Mutation; Pedigree
• ISSN: 1003-9406
• DOI: 10.3760/cma.j.cn511374-20221102-00750

To explore the clinical characteristics and genetic etiology of a consanguineous Chinese pedigree affected with Congenital coagulation factor XII (XII) deficiency. Members of the pedigree who had visited Ruian People's Hospital on July 12, 2021 were selected as the study subjects. Clinical data of the pedigree were reviewed. Peripheral venous blood samples were taken from the subjects. Blood coagulation index and genetic testing were carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. This pedigree has comprised 6 individuals from 3 generations, including the proband, his father, mother, wife, sister and son. The proband was a 51-year-old male with kidney stones. Blood coagulation test showed that his activated partial thromboplastin time (APTT) was significantly prolonged, whilst the FXII activity (FXII:C) and FXII antigen (FXII:Ag) were extremely reduced. The FXII:C and FXII:Ag of proband's father, mother, sister and son have all reduced to about half of the lower li