2. Academic Validation
  3. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

  • Nat Genet. 2011 Jul 17;43(8):735-7. doi: 10.1038/ng.885.
Cornelis A Albers 1,  Ana Cvejic,  Rémi Favier,  Evelien E Bouwmans,  Marie-Christine Alessi,  Paul Bertone,  Gregory Jordan,  Ross N W Kettleborough,  Graham Kiddle,  Myrto Kostadima,  Randy J Read,  Botond Sipos,  Suthesh Sivapalaratnam,  Peter A Smethurst,  Jonathan Stephens,  Katrin Voss,  Alan Nurden,  Augusto Rendon,  Paquita Nurden,  Willem H Ouwehand
Affiliations

Affiliation

  • 1 Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK. caa@sanger.ac.uk
PMID: 21765411 DOI: 10.1038/ng.885
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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