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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Spectrum of the mutations in bernard-soulier syndrome
Human Mutation, Volume 35, No. 9, Year 2014
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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 (GPIbα), GP1BB (GPIbβ), 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. © 2014 WILEY PERIODICALS, INC.
Authors & Co-Authors
Savoia, Anna
Italy, Trieste
Irccs Burlo Garofolo
Italy, Trieste
Università Degli Studi Di Trieste
Kunishima, Shinji
Japan, Nagoya
National Hospital Organization Nagoya Medical Center
De Rocco, Daniela
Italy, Trieste
Università Degli Studi Di Trieste
Zieger, Barbara
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Rand, Margaret Lucille
Canada, Toronto
Hospital for Sick Children University of Toronto
Pujol-Moix, Núria
Spain, Cerdanyola Del Valles
Universitat Autònoma de Barcelona
Çalışkan, Ümran
Turkey, Meram
Necmettin Erbakan Üniversitesi
Tokgöz, Hüseyin
Turkey, Meram
Necmettin Erbakan Üniversitesi
Pecci, Alessandro
Italy, Pavia
Fondazione Irccs Policlinico San Matteo
Noris, Patrizia
Italy, Pavia
Fondazione Irccs Policlinico San Matteo
Srivastava, Alok
India, Vellore
Christian Medical College, Vellore
Ward, Christopher Morice
Australia, Sydney
Kolling Institute of Medical Research
Morel-Kopp, Marie Christine
Australia, Sydney
Kolling Institute of Medical Research
Alessi, Marie Christine
France, Paris
Inserm
Bellucci, Sylvia A.
France, Paris
Hôpital Lariboisiere Ap-hp
Beurrier, Philippe
France, Angers
Chu Angers
de Maistre, Emmanuel
France, Dijon
Hôpital François Mitterrand
Favier, Rémi
France, Paris
Hôpital Armand-trousseau
France, Villejuif
Hématopoïèse Normale et Pathologique
Hézard, Nathalie
France, Reims
Hopital Robert Debre Chu de Reims
Hurtaud-Roux, Marie Françoise
France, Paris
Hôpital Robert-debré Ap-hp
Latger-Cannard, Véronique
France, Nancy
Chu de Nancy
Lavenu-Bombled, Cećile
France, Le Kremlin-bicetre
Hopital de Bicetre
Proulle, Valérie
France, Le Kremlin-bicetre
Hopital de Bicetre
Meunier, Sandrine
France, Lyon
Chu de Lyon
Négrier, Claude G.
France, Lyon
Hopital Edouard Herriot
Nurden, Alan T.
France, Pessac
Hôpital Xavier-arnozan C.h.u de Bordeaux
Randrianaivo, Hanitra
Canada, Montreal
Chu Sainte-justine - le Centre Hospitalier Universitaire Mère-enfant
Fabris, Fabrizio Margherita
Italy, Padua
Università Degli Studi Di Padova
Platokouki, Helen E.
Greece, Athens
Children's Hospital
Rosenberg, Nurit
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
HadjKacem, Basma
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Heller, P. G.
Argentina, Buenos Aires
Instituto de Investigaciones Medicas Alfredo Lanari
Karimi, Mehran A.
Iran, Shiraz
Hematology Research Center
Balduini, Carlo Luigi
Italy, Pavia
Fondazione Irccs Policlinico San Matteo
Pastore, Annalisa
United Kingdom, London
King's College London
Lanza, François
France, Paris
Inserm
France, Saint-denis-la-plaine
Etablissement Français du Sang
France, Strasbourg
Université de Strasbourg
France
Centre de Compétence Nord-est Des Pathologies Plaquettaires
Statistics
Citations: 126
Authors: 36
Affiliations: 34
Identifiers
Doi:
10.1002/humu.22607
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Genetics And Genomics
Health System And Policy