Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
Cornelis A Albers1, Ana Cvejic, Rémi Favier
1Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK. caa@sanger.ac.uk
Nature Genetics
|July 19, 2011
Abstract:
Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder that is characterized by mild thrombocytopenia with large platelets and a paucity of α-granules; these abnormalities cause mostly moderate but in rare cases severe bleeding. We sequenced the exomes of four unrelated individuals and identified NBEAL2 as the causative gene; it has no previously known function but is a member of a gene family that is involved in granule development. Silencing of nbeal2 in zebrafish abrogated thrombocyte formation.
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