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.
MeSH terms
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Adult
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Aged
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Animals
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Animals, Genetically Modified
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Base Sequence
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Blood Platelets / metabolism*
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Blood Platelets / pathology
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Cytoplasmic Granules / metabolism*
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Embryo, Nonmammalian / cytology
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Embryo, Nonmammalian / metabolism
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Female
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Gene Expression Regulation, Developmental
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Gray Platelet Syndrome / genetics*
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Humans
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Male
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Middle Aged
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Molecular Sequence Data
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Nerve Tissue Proteins / antagonists & inhibitors
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Nerve Tissue Proteins / genetics*
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Pedigree
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Secretory Vesicles / metabolism*
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Sequence Analysis, DNA
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Sequence Homology, Nucleic Acid
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Young Adult
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Zebrafish / growth & development
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Zebrafish / metabolism