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
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.