title: Fibrinogen geneva II: a new congenitally abnormal fibrinogen alpha chain (Gly17Asp) with a review of similar mutations resulting in abnormal knob A.
abstract: Congenital dysfibrinogenemias are characterized by biosynthesis of a structurally abnormal fibrinogen molecule that exhibits reduced functional levels compared with the level of fibrinogen antigen. To date a large number of mutations have been identified in patients with dysfibrinogenemia. Mutations occurring at the thrombin cleavage site (Arg16-Gly17 in the mature alpha-chain) at the amino-terminal end of the fibrinogen alpha chain are a common cause of the disease. These mutations causing abnormal fibrin polymerization are associated with different phenotypes. Here, we report the identification of a novel heterozygous missense mutation of Glycine 17 (Gly17Asp) in a female patient with mild bleeding manifestations, and compare it with other previously reported mutations also resulting in abnormal knob A.
authors.affiliation: aDivision of Angiology and Haemostasis, University Hospitals and Faculty of Medicine, Geneva, Switzerland bDepartment of Biology and Haematology, CHU Dijon, Dijon, France cDivision of Internal Medicine, University Hospitals and Faculty of Medicine dDepartment of Genetic Medicine and Development, University of Geneva, Faculty of Medicine, Geneva, Switzerland.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Casini
authors.forename: Emmanuel
authors.initials: E
authors.lastname: De Maistre
authors.forename: Virginie
authors.initials: V
authors.lastname: Casini-Stuppi
authors.forename: Pierre
authors.initials: P
authors.lastname: Fontana
authors.forename: Marguerite
authors.initials: M
authors.lastname: Neerman-Arbez
authors.forename: Philippe
authors.initials: P
authors.lastname: de Moerloose
mesh_terms: D000347:Afibrinogenemia / Q000235:genetics*; D005260:Female; D015241:Fibrinogens, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense
chemical_list: D015241:Fibrinogens, Abnormal; C071488:fibrinogen Geneva