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- Title
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
- Authors
Albers, Cornelis A; Cvejic, Ana; Favier, Rémi; Bouwmans, Evelien E; Alessi, Marie-Christine; Bertone, Paul; Jordan, Gregory; Kettleborough, Ross N W; Kiddle, Graham; Kostadima, Myrto; Read, Randy J; Sipos, Botond; Sivapalaratnam, Suthesh; Smethurst, Peter A; Stephens, Jonathan; Voss, Katrin; Nurden, Alan; Rendon, Augusto; Nurden, Paquita; Ouwehand, Willem H
- 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.
- Publication
Nature genetics, 2011, Vol 43, Issue 8, p735
- ISSN
1546-1718
- Publication type
Journal Article
- DOI
10.1038/ng.885