title: Quebec platelet disorder.
abstract: Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder associated with a unique gain-of-function defect in fibrinolysis. In the past 5 years, there have been important advances in the understanding of the pathogenesis of QPD, including its genetic cause, which is a copy number variation mutation of PLAU, the gene for urokinase plasminogen activator (uPA). QPD is the first bleeding disorder identified to be caused by a PLAU mutation and it is also the first bleeding disorder recognized to result from a gene copy number mutation. The molecular defect of QPD leads to marked overexpression of uPA during megakaryopoiesis, producing profibrinolytic platelets that contain active forms of uPA in their α-granules. This article summarizes expert opinions on the features of QPD and recent advances in the understanding of its pathogenesis and genetic cause.
authors.affiliation: Departments of Pathology and Molecular Medicine, Michael G DeGroote Centre for Learning, McMaster University, 1280 Main Street West, Hamilton, Ontario, Canada. haywrdc@mcmaster.ca
authors.forename: Catherine P M
authors.initials: CP
authors.lastname: Hayward
authors.forename: Georges E
authors.initials: GE
authors.lastname: Rivard
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D005166:Factor V Deficiency / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D018628:Gene Dosage; D006470:Hemorrhage; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D009154:Mutation; D034061:Thrombopoiesis; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics / Q000378:metabolism
chemical_list: D014568:Urokinase-Type Plasminogen Activator