Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder.
An as yet single family with a bleeding history is shown to present the characteristic lack of membrane expression of procoagulant phospholipids observed in Scott syndrome. Low prothrombin consumption in the serum of the propositus, a 71-year-old woman, and two of her children was the sole abnormal hemostasis parameter. The degree of exposure of procoagulant phospholipids, chiefly phosphatidylserine, was reduced in stimulated platelets, erythrocytes and Epstein-Barr virus-infected B lymphocytes. The data are compatible with homozygous status of the propositus and heterozygous status of her children. Scott syndrome appears to be transmitted as an autosomal recessive trait reflecting the deletion or mutation of a putative outward phosphatidylserine translocase. The detailed knowledge of this transporter could have an impact in membrane physiology.
Toti
F
F
Institut d'Hématolgoie et Immunologie, Faculté de Médecine, Université Louis Pasteur, Strasbourg, France.
Satta
N
N
Fressinaud
E
E
Meyer
D
D
Freyssinet
J M
JM
D000368:Aged; D001402:B-Lymphocytes / Q000378:metabolism; D001778:Blood Coagulation Disorders / Q000235:genetics* / Q000378:metabolism; D000001:Calcimycin / Q000494:pharmacology; D002462:Cell Membrane / Q000378:metabolism; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D005808:Genes, Recessive; D006487:Hemostasis; D006801:Humans; D007476:Ionophores / Q000494:pharmacology; D008297:Male; D008563:Membrane Lipids / Q000378:metabolism; D010375:Pedigree; D010718:Phosphatidylserines / Q000378:metabolism*
D007476:Ionophores; D008563:Membrane Lipids; D010718:Phosphatidylserines; D000001:Calcimycin