Spectrum of the Mutations in Bernard-Soulier Syndrome

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dc.contributor.authorSavoia, Anna
dc.contributor.authorKunishima, Shinji
dc.contributor.authorDe Rocco, Daniela
dc.contributor.authorZieger, Barbara
dc.contributor.authorRand, Margaret L.
dc.contributor.authorPujol-Moix, Nuria
dc.contributor.authorCaliskan, Umran
dc.date.accessioned2024-02-23T12:11:09Z
dc.date.available2024-02-23T12:11:09Z
dc.date.issued2014
dc.departmentNEÜen_US
dc.description.abstractBernard-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.en_US
dc.description.sponsorshipIRCCS Burlo Garofolo [16/12]; INSERM [GIS Maladies Rares] [GISMR2010]; Etablissement Francais du Sang (EFS) [APR2010, APR2013-14]; Grants-in-Aid for Scientific Research [26461413] Funding Source: KAKENen_US
dc.description.sponsorshipContract grant sponsors: IRCCS Burlo Garofolo (16/12); INSERM [GIS Maladies Rares (GISMR2010)]; Etablissement Francais du Sang (EFS) (APR2010, APR2013-14).en_US
dc.identifier.doi10.1002/humu.22607
dc.identifier.endpage1045en_US
dc.identifier.issn1059-7794
dc.identifier.issn1098-1004
dc.identifier.issue9en_US
dc.identifier.pmid24934643en_US
dc.identifier.scopus2-s2.0-84906056536en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1033en_US
dc.identifier.urihttps://doi.org/10.1002/humu.22607
dc.identifier.urihttps://hdl.handle.net/20.500.12452/10569
dc.identifier.volume35en_US
dc.identifier.wosWOS:000340557900002en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofHuman Mutationen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectBernard-Soulier Syndromeen_US
dc.subjectGp1baen_US
dc.subjectGp1bben_US
dc.subjectGp9en_US
dc.titleSpectrum of the Mutations in Bernard-Soulier Syndromeen_US
dc.typeArticleen_US

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