title: A novel mutation (Leu817Pro) causing type 2A von Willebrand disease.
abstract: We studied a patient affected by von Willebrand disease type 2A who experienced several mild bleeding episodes and was characterized by markedly reduced haemostatic parameters. In the exon 28 of von Willebrand factor (vWF) gene a T to C transition at nucleotide 8680, resulting in the missense mutation Leu817Pro, was found in the heterozygous form in the patient and in two affected relatives. As suggested by the presence in platelets of a complete spectrum of vWF multimers as well as by the increased vWF antigen levels and improved haemostasis after DDAVP treatment, the mutation is compatible with normal multimerization, and could be responsible for a reduced stability or an impaired physiological secretion of vWF.
authors.affiliation: Centro per lo Studio dell'Emostasi e Trombosi, Università degli Studi di Ferrara, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Gemmati
authors.forename: M L
authors.initials: ML
authors.lastname: Serino
authors.forename: S
authors.initials: S
authors.lastname: Moratelli
authors.forename: G
authors.initials: G
authors.lastname: Ballerini
authors.forename: M
authors.initials: M
authors.lastname: Furbetta
authors.forename: B
authors.initials: B
authors.lastname: Lunghi
authors.forename: G
authors.initials: G
authors.lastname: Marchetti
authors.forename: F
authors.initials: F
authors.lastname: Bernardi
mesh_terms: D001483:Base Sequence; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011392:Proline / Q000235:genetics; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor; D011392:Proline; D007930:Leucine