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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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
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spelling Spectrum of the Mutations in Bernard-Soulier SyndromeSavoia, AKunishima, SDe Rocco, DZieger, BRand, MLPujol-Moix, NCaliskan, UTokgoz, HPecci, ANoris, PSrivastava, AWard, CMorel-Kopp, MCAlessi, MCBellucci, SBeurrier, Pde Maistre, EFavier, RHezard, NHurtaud-Roux, MFLatger-Cannard, VLavenu-Bombled, CProulle, VMeunier, SNegrier, CNurden, ARandrianaivo, HFabris, FPlatokouki, HRosenberg, NHadjKacem, BHeller, PGKarimi, MBalduini, CLPastore, ALanza, FBernard-Soulier syndromeGP1BAGP1BBGP9Bernard-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.WILEY2014info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9156HUMAN MUTATIONISSN: 10597794ISSNe: 10981004reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauinstname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)Inglésinfo:eu-repo/semantics/openAccessoai:iibsantpau.fundanetsuite.com:p91562026-06-14T12:41:47Z
dc.title.none.fl_str_mv Spectrum of the Mutations in Bernard-Soulier Syndrome
title Spectrum of the Mutations in Bernard-Soulier Syndrome
spellingShingle Spectrum of the Mutations in Bernard-Soulier Syndrome
Savoia, A
Bernard-Soulier syndrome
GP1BA
GP1BB
GP9
title_short Spectrum of the Mutations in Bernard-Soulier Syndrome
title_full Spectrum of the Mutations in Bernard-Soulier Syndrome
title_fullStr Spectrum of the Mutations in Bernard-Soulier Syndrome
title_full_unstemmed Spectrum of the Mutations in Bernard-Soulier Syndrome
title_sort Spectrum of the Mutations in Bernard-Soulier Syndrome
dc.creator.none.fl_str_mv 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
author Savoia, A
author_facet 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
author_role author
author2 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
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Bernard-Soulier syndrome
GP1BA
GP1BB
GP9
topic Bernard-Soulier syndrome
GP1BA
GP1BB
GP9
description 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.
publishDate 2014
dc.date.none.fl_str_mv 2014
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9156
url https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9156
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv WILEY
publisher.none.fl_str_mv WILEY
dc.source.none.fl_str_mv HUMAN MUTATION
ISSN: 10597794
ISSNe: 10981004
reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
instname_str Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
reponame_str r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
collection r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,812429

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