title: Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes.
abstract: Dysfibrinogenemia and factor VII (FVII) deficiency are rare congenital coagulopathies. In this report, the authors describe a man with both defects confirmed by molecular genetic tests. The patient was a 51-year-old man referred for prolonged prothrombin time (PT) that had been accidentally detected on preoperative screening. He had no history of bleeding tendency even on occasions of surgery. Routine coagulation studies revealed prolonged PT (1.53 INR) and thrombin time (42.2 s), and decreased fibrinogen level (57 mg/dl) and FVII activity (44%). Direct sequencing analyses were performed on FGA, FGB, and FGG genes to confirm dysfibrinogenemia and on the F7 gene to confirm FVII deficiency. As a result, the patient was shown to be heterozygous for a point mutation in exon 8 of the FGB gene (c.1475A > G, p.*492Trpext*12; Fibrinogen Magdeburg II) and for a missense mutation in exon 6 of the F7 gene (c.466G  > A, p.Gly156Ser). To our knowledge, this is the first report on a case of combined dysfibrinogenemia and FVII deficiency confirmed by molecular genetic tests.
authors.affiliation: Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hye In
authors.initials: HI
authors.lastname: Woo
authors.forename: In-Ae
authors.initials: IA
authors.lastname: Park
authors.forename: Ki-O
authors.initials: KO
authors.lastname: Lee
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Kim
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
mesh_terms: D000347:Afibrinogenemia / Q000151:congenital* / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000235:genetics*; D005340:Fibrinogen / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D011517:Prothrombin Time
chemical_list: D005167:Factor VII; D005340:Fibrinogen