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

CA Albers, A Cvejic, R Favier, EE Bouwmans… - Nature …, 2011 - nature.com
CA Albers, A Cvejic, R Favier, EE Bouwmans, MC Alessi, P Bertone, G Jordan
Nature genetics, 2011nature.com
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.
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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