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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 ?-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

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

Albers Cornelis A CA Cvejic Ana A Favier Rémi R Bouwmans Evelien E EE Alessi Marie-Christine MC Bertone Paul P Jordan Gregory G Kettleborough Ross N W RN Kiddle Graham G Kostadima Myrto M Read Randy J RJ Sipos Botond B Sivapalaratnam Suthesh S Smethurst Peter A PA Stephens Jonathan J Voss Katrin K Nurden Alan A Rendon Augusto A Nurden Paquita P Ouwehand Willem H WH

Nature genetics 20110717 8

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 abrogate ...[more]

PMID: 21765411

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