Spectrum of the Mutations in Bernard-Soulier Syndrome

Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb-IX-V complex, a platelet receptor for von Willebrand factor (VWF). Most of the mutations identified in the genes encoding for the GP1BA (GPIb alpha), GP1BB (GPIb beta), and GP9 (GPIX)...

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Detalles Bibliográficos
Autores: Savoia, A, Kunishima, S, De Rocco, D, Zieger, B, Rand, ML, Pujol-Moix, N, Caliskan, U, Tokgoz, H, Pecci, A, Noris, P, Srivastava, A, Ward, C, Morel-Kopp, MC, Alessi, MC, Bellucci, S, Beurrier, P, de Maistre, E, Favier, R, Hezard, N, Hurtaud-Roux, MF, Latger-Cannard, V, Lavenu-Bombled, C, Proulle, V, Meunier, S, Negrier, C, Nurden, A, Randrianaivo, H, Fabris, F, Platokouki, H, Rosenberg, N, HadjKacem, B, Heller, PG, Karimi, M, Balduini, CL, Pastore, A, Lanza, F
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2014
País:España
Institución:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repositorio:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:oai:iibsantpau.fundanetsuite.com:p9156
Acceso en línea:https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9156
Access Level:acceso abierto
Palabra clave:Bernard-Soulier syndrome
GP1BA
GP1BB
GP9
Descripción
Sumario:Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb-IX-V complex, a platelet receptor for von Willebrand factor (VWF). Most of the mutations identified in the genes encoding for the GP1BA (GPIb alpha), GP1BB (GPIb beta), and GP9 (GPIX) subunits prevent expression of the complex at the platelet membrane or more rarely its interaction with VWF. As a consequence, platelets are unable to adhere to the vascular subendothelium and agglutinate in response to ristocetin. In order to collect information on BSS patients, we established an International Consortium for the study of BSS, allowing us to enrol and genotype 132 families (56 previously unreported). With 79 additional families for which molecular data were gleaned from the literature, the 211 families characterized so far have mutations in the GP1BA (28%), GP1BB (28%), or GP9 (44%) genes. There is a wide spectrum of mutations with 112 different variants, including 22 novel alterations. Consistent with the rarity of the disease, 85% of the probands carry homozygous mutations with evidence of founder effects in some geographical areas. This overview provides the first global picture of the molecular basis of BSS and will lead to improve patient diagnosis and management. (C) 2014 Wiley Periodicals, Inc.

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