MUTATION REPORTSA novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patientLiu, Siqi; Luo, Shasha; Yang, Lihong; Jin, Yanhui; Xie, Haixiao; Xie, Yaosheng; Li, Xiaolong; Wang, Mingshan Author Information Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China Correspondence to Mingshan Wang, Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou 325000, China Tel: +86 57788069594; fax: +86 57788069596; e-mail: [email protected] Received 30 July, 2019 Revised 21 October, 2019 Accepted 5 November, 2019 Blood Coagulation & Fibrinolysis: January 2020 - Volume 31 - Issue 1 - p 71-76 doi: 10.1097/MBC.0000000000000871 Buy Metrics Abstract To explore the phenotype and genotype of a Chinese family with hereditary factor V deficiency. Routine blood coagulation indexes were detected by one-stage clotting method, whereas factor V antigen was detected by ELISA. All exons and intron–exon boundaries of F5 gene were amplified by PCR and sequenced directly. The suspected mutation was confirmed by reverse sequencing. Bioinformatics softwares were used to analyze the possible impact of this mutation. Phenotypic analysis showed that the proband had significantly prolonged prothrombin time and activated partial thromboplastin time, and his factor V clotting activity was decreased to 3%. Genetic analysis revealed a homozygous missense mutation c.5227G>A (p.Gly1715Ser) in exon 16 of F5 gene. Bioinformatics and structural analysis demonstrated this mutation was deleterious and could affect the integrity of local intermolecular structures. The missense mutation (Gly1715Ser) was responsible for the decrease of factor V clotting activity and factor V antigen in this family, and caused type I hereditary factor V deficiency. Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.