Spectrum of the Mutations in Bernard–Soulier Syndrome. Issue 9 (15th July 2014)

• Record Type: Journal Article
• Authors: Savoia, Anna; Kunishima, Shinji; De Rocco, Daniela; Zieger, Barbara; Rand, Margaret L.; Pujol‐Moix, Nuria; Caliskan, Umran; Tokgoz, Huseyin; Pecci, Alessandro; Noris, Patrizia; Srivastava, Alok; Ward, Christopher; Morel‐Kopp, Marie‐Christine; Alessi, Marie‐Christine; Bellucci, Sylvia; Beurrier, Philippe; de Maistre, Emmanuel; Favier, Rémi; Hézard, Nathalie; Hurtaud‐Roux, Marie‐Françoise; Latger‐Cannard, Véronique; Lavenu‐Bombled, Cécile; Proulle, Valérie; Meunier, Sandrine; Négrier, Claude; Nurden, Alan; Randrianaivo, Hanitra; Fabris, Fabrizio; Platokouki, Helen; Rosenberg, Nurit; HadjKacem, Basma; Heller, Paula G.; Karimi, Mehran; Balduini, Carlo L.; Pastore, Annalisa; Lanza, Francois;
• Is Part Of: Human mutation. Volume 35:Issue 9(2014:Sep.)
• Page Start: 1033
• Page End: 1045
• Publication Date: 2014-07-15
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22607
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22607-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We present a comprehensive spectrum of mutations of GP1BA (GPIbα), GP1BB (GPIbβ) and GP9 (GPIX) causing Bernard‐Soulier syndrome (BSS), a rare bleeding autosomal recessive disorder. Of the 211 families enrolled, 28% have mutations in GP1BA, another 28% in GP1BB and the remaining 44% in GP9. Excluding a few founder effects, most of the 112 different mutations identified are private. Missense variants, whose pathogenetic role should be determined through functional studies, accounts for more than half BSS alleles. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh11pns9pm" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>