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Phenotypic and genetic analysis of hypofibrinogenemia because of a novel missense mutation in the FGB

Leu121Arg

Zhang, Haiyue; Luo, Shasha; Fang, Weiwei; Liu, Siqi; Su, Kankan; Yang, Lihong; Jin, Yanhui; Wang, Mingshan

Blood Coagulation & Fibrinolysis: July 2019 - Volume 30 - Issue 5 - p 233–238
doi: 10.1097/MBC.0000000000000827
MUTATION REPORT
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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.

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: wywms@126.com

Received 6 January, 2019

Revised 23 April, 2019

Accepted 4 June, 2019

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