CASE REPORTSA novel fibrinogen mutation (γ Thr277Arg) causes hereditary hypofibrinogenemia in a Chinese familyZhu, Liqing; Wang, Mingshan; Xie, Haixiao; Jin, Yanhui; Yang, Lihong; Xu, PengfeiAuthor Information Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical College, Lucheng district, Wenzhou, China Correspondence to Mingshan Wang, Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical College, 96 Fuxue Lane, Lucheng district, Wenzhou 325000, China Tel: +8657788069594; fax: +8657788069596; e-mail: email@example.com Received 4 September, 2012 Revised 22 January, 2013 Accepted 31 January, 2013 Blood Coagulation & Fibrinolysis: September 2013 - Volume 24 - Issue 6 - p 642-644 doi: 10.1097/MBC.0b013e32835facdc Buy Metrics Abstract Congenital hypofibrinogenemia is a rare disorder caused by heterozygous mutations in one of the three fibrinogen genes – fibrinogen α-chain (FGA), fibrinogen β-chain (FGB) and fibrinogen γ-chain (FGG) – which code for the Aα, Bβ and γ chains, respectively. In this study, we identified a genetic defect in the FGG underlying the hypofibrinogenemia. The proposita had a prolonged blood clotting time (thrombin time 24.5 s, prothrombin time 16.8 s) and a low level of plasma fibrinogen (0.71 g/l by Clauss method and 0.79 g/l by immunoturbidimetry). DNA screening of the whole fibrinogen gene revealed a heterozygous GC mutation at nucleotide 7482 in her FGG gene. Her father and her half-brother are also heterozygous for this mutation. This mutation contributes to Thr277 → Arg in the γ chain of fibrinogen. To the best of our knowledge, this is the first report of such a mutation that is associated with hypofibrinogenemia. Copyright © 2013 YEAR Wolters Kluwer Health, Inc. All rights reserved.