1. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
- Author
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Augusto Rendon, Ana Cvejic, Paquita Nurden, Peter A. Smethurst, Ross Kettleborough, Randy J. Read, Willem H. Ouwehand, Katrin Voss, Rémi Favier, Graham Kiddle, Paul Bertone, Marie-Christine Alessi, Myrto Kostadima, Botond Sipos, Cornelis A. Albers, Alan T. Nurden, Evelien E. Bouwmans, Gregory E. Jordan, Jonathan Stephens, Suthesh Sivapalaratnam, Cvejic, Ana [0000-0003-3204-9311], Bertone, Paul [0000-0001-5059-4829], Read, Randy [0000-0001-8273-0047], Stephens, Jonathan [0000-0003-2020-9330], Rendon Restrepo, Augusto [0000-0001-8994-0039], Ouwehand, Willem [0000-0002-7744-1790], Apollo - University of Cambridge Repository, and Vascular Medicine
- Subjects
Adult ,Blood Platelets ,Male ,Embryo, Nonmammalian ,Platelet disorder ,Molecular Sequence Data ,Nerve Tissue Proteins ,030204 cardiovascular system & hematology ,Cytoplasmic Granules ,Gray Platelet Syndrome ,Article ,Gray platelet syndrome ,Animals, Genetically Modified ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Sequence Homology, Nucleic Acid ,Genetics ,medicine ,Gene silencing ,Animals ,Humans ,Platelet ,Zebrafish ,Gene ,Exome sequencing ,030304 developmental biology ,Aged ,Regulation of gene expression ,0303 health sciences ,biology ,Base Sequence ,Secretory Vesicles ,Gene Expression Regulation, Developmental ,Sequence Analysis, DNA ,Middle Aged ,biology.organism_classification ,medicine.disease ,Pedigree ,Immunology ,Female - 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.
- Published
- 2011