Bernard-Soulier syndrome

Definition:

Bernard-Soulier syndrome (BSS) is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor which is composed of 4 proteins, GP1BA, GP1BB, GP9 and GP5. The clinical feature is characterized by variable thrombocytopenia and large defective platelets.

References:

[1]. François Lanza, et al. Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). Orphanet J Rare Dis. 2006 Nov 16;1:46. [Content Brief]

[2]. L B Ludlow, et al. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J Biol Chem. 1996 Sep 6;271(36):22076-80. [Content Brief]

[3]. P Noris, et al. A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. Br J Haematol. 1997 May;97(2):312-20. [Content Brief]

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