MUTATION REPORTPhenotypic and genetic analysis of hypofibrinogenemia because of a novel missense mutation in the FGB Leu121ArgZhang, Haiyue; Luo, Shasha; Fang, Weiwei; Liu, Siqi; Su, Kankan; Yang, Lihong; Jin, Yanhui; Wang, MingshanAuthor Information Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, 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 6 January, 2019 Revised 23 April, 2019 Accepted 4 June, 2019 Blood Coagulation & Fibrinolysis: July 2019 - Volume 30 - Issue 5 - p 233-238 doi: 10.1097/MBC.0000000000000827 Buy Metrics Abstract In this study, we found a novel missense gene mutation of fibrinogen (FIB) and it will help us to understand the pathogenesis of this type of disease. The FIB activity (FIB:C) and FIB antigen (FIB:Ag) were detected using matched commercially available kits. To identify the novel missense mutation, the fibrinogen gene sequencing was carried out. Bioinformatics and model analysis were used to study the harm of the mutation. The FIB:C and FIB:Ag of the proband were 0.82 and 1.19 g/l, respectively. Sequencing analysis detected a heterozygous c.425T>G in exon three of FGB gene resulting in p.Leu121Arg. The Leu121Arg mutation was responsible for the decrease of FIB:C, and it was the first report of such a mutation in the world. Copyright © 2019 YEAR Wolters Kluwer Health, Inc. All rights reserved.