title: Von Willebrand's disease: a novel mutation, P1824H and the incidence of R1205H defect among families with dominant quantitative von Willebrand factor deficiency.
abstract: To date, few mutations associated with a dominant quantitative deficiency of von Willebrand factor (VWF) and a high penetrance have been reported. This phenotype was confirmed in seven unrelated families of several patients diagnosed with von Willebrand's disease out of 70 who requested genetic studies of the VWF gene. The mutations linked to this type were identified: R1205H in five families; T1156M in one family; and the new P1824H alteration in one other family. The R1205H mutation linked to the different haplotypes might well be frequent among this variant. The P1824H in the A3 domain is associated with very low VWF levels and with a moderate-to-severe bleeding tendency, unlike the other mutations reported in this domain.
authors.affiliation: Unidad de Coagulopatías Congénitas, Hospital Universitari La Fe, Av. Campanar, 21, 46009 Valencia, Spain. casanya_pil@gva.es
authors.forename: Pilar
authors.initials: P
authors.lastname: Casaña
authors.forename: Noelia
authors.initials: N
authors.lastname: Cabrera
authors.forename: Saturnino
authors.initials: S
authors.lastname: Haya
authors.forename: Ana Rosa
authors.initials: AR
authors.lastname: Cid
authors.forename: José Antonio
authors.initials: JA
authors.lastname: Aznar
mesh_terms: D019943:Amino Acid Substitution; D005190:Family; D006470:Hemorrhage / Q000209:etiology / Q000235:genetics; D006801:Humans; D015994:Incidence; D010641:Phenotype; D011110:Polymorphism, Genetic; D012016:Reference Values; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000145:classification / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor