title: A novel fibrinogen mutation (γ Thr277Arg) causes hereditary hypofibrinogenemia in a Chinese family.
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.
authors.affiliation: Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical College, Lucheng district, Wenzhou, China.
authors.forename: Liqing
authors.initials: L
authors.lastname: Zhu
authors.forename: Mingshan
authors.initials: M
authors.lastname: Wang
authors.forename: Haixiao
authors.initials: H
authors.lastname: Xie
authors.forename: Yanhui
authors.initials: Y
authors.lastname: Jin
authors.forename: Lihong
authors.initials: L
authors.lastname: Yang
authors.forename: Pengfei
authors.initials: P
authors.lastname: Xu
mesh_terms: D000293:Adolescent; D000347:Afibrinogenemia / Q000097:blood / Q000151:congenital* / Q000235:genetics; D044466:Asian People / Q000235:genetics; D001780:Blood Coagulation Tests / Q000379:methods; D005260:Female; D005340:Fibrinogen / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation
chemical_list: D005340:Fibrinogen