Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Accepted version
Peer-reviewed
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Repository DOI
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Authors
Albers, Cornelis A
Cvejic, Ana https://orcid.org/0000-0003-3204-9311
Favier, Rémi
Bouwmans, Evelien E
Alessi, Marie-Christine
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.
Description
Keywords
Adult, Aged, Animals, Animals, Genetically Modified, Base Sequence, Blood Platelets, Cytoplasmic Granules, Embryo, Nonmammalian, Female, Gene Expression Regulation, Developmental, Gray Platelet Syndrome, Humans, Male, Middle Aged, Molecular Sequence Data, Nerve Tissue Proteins, Pedigree, Secretory Vesicles, Sequence Analysis, DNA, Sequence Homology, Nucleic Acid, Young Adult, Zebrafish
Journal Title
Nat Genet
Conference Name
Journal ISSN
1061-4036
1546-1718
1546-1718
Volume Title
43
Publisher
Springer Science and Business Media LLC
Publisher DOI
Rights
All rights reserved
Sponsorship
British Heart Foundation (None)
Wellcome Trust (082597/Z/07/Z)
Wellcome Trust (082961/Z/07/Z)
Wellcome Trust (084183/Z/07/Z)
Wellcome Trust (082597/Z/07/Z)
Wellcome Trust (082961/Z/07/Z)
Wellcome Trust (084183/Z/07/Z)