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.

/pdf/exome-sequencing-identifies-nbeal2-as-the-causative-gene-for-1zyheawhni.pdf

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

Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack α-granules. Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS express a unique combination of NBEAL2 transcripts. Proteomic analysis of sucrose-gradient subcellular fractions of platelets indicated that NBEAL2 localizes to the dense tubular system (endoplasmic reticulum) in platelets.

/pdf/nbeal2-is-mutated-in-gray-platelet-syndrome-and-is-required-rtf5cd1kbs.pdf

NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1538-7836.2005.01428.x

Qualitative disorders of platelets and megakaryocytes.

Pathologic interaction between megakaryocytes and polymorphonuclear leukocytes in myelofibrosis.

http://www.cs.technion.ac.il/~dang/journal_papers/gunay2010gray.pdf

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

The ultrastructure and cytochemistry of megakaryocytes from two patients with a familial gray platelet syndrome are described. Although the Golgi zones appeared normally developed, the megakaryocytes lacked alpha-granules. Catalase-containing particles were normal in number. In immature megakaryocytes, granules measuring from 0.05-0.1 mu and having an electron-dense core occurred in the Golgi area. These granules, which are considered as the precursors of alpha-granules in normal megakaryocytes, appeared unable to mature, and their number decreased with the megakaryocyte maturation. The presence of dense material in distended demarcation membranes and/or vacuoles suggested that their content was discharged. It is suggested that myelofibrosis present in the bone marrow from these two patients may be related to the possible excretion of a polypeptide growth factor normally contained in the alpha-granules. Megakaryocytes grown by the plasma clot procedure from blood precursors isolated from the two patients also did not exhibit alpha-granules, which were replaced by vacuoles. Our findings suggest that the lack of alpha-granules in gray platelets may be related to a defective megakaryocyte-committed cell, and evidence is presented which suggests that the precursors of alpha-granules are produced but that their contents are then lost.

Defective alpha-granule production in megakaryocytes from gray platelet syndrome: ultrastructural studies of bone marrow cells and megakaryocytes growing in culture from blood precursors.

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Defective alpha-granule production in megakaryocytes from gray platelet syndrome: ultrastructural studies of bone marrow cells and megakaryocytes growing in culture from blood precursors.