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

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.

SUBMITTER: Albers CA 

PROVIDER: S-EPMC3428934 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature