Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome

Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder characterized by a 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 cases and iden...

Descripción completa

Detalles Bibliográficos
Autores principales: Albers, Cornelis A, Cvejic, Ana, Favier, Rémi, Bouwmans, Evelien E, Alessi, Marie-Christine, Bertone, Paul, Jordan, Gregory, Kettleborough, Ross NW, Kiddle, Graham, Kostadima, Myrto, Read, Randy J, Sipos, Botond, Sivapalaratnam, Suthesh, Smethurst, Peter A, Stephens, Jonathan, Voss, Katrin, Nurden, Alan, Rendon, Augusto, Nurden, Paquita, Ouwehand, Willem H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2011
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428934/
https://www.ncbi.nlm.nih.gov/pubmed/21765411
http://dx.doi.org/10.1038/ng.885
Descripción
Sumario:Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder characterized by a 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 cases and identified as the causative gene NBEAL2, a gene with previously unknown function but a member of a gene family involved in granule development. Silencing of nbeal2 in zebrafish abrogated thrombocyte formation.

Ejemplares similares