Gray platelet syndrome
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Gray platelet syndrome (GPS), or platelet alpha-granule deficiency,[1] is a rare congenital bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis.[2]
GPS is primarily inherited in an autosomal recessive manner, and the gene that is mutated in GPS has recently been mapped to chromosome 3p[3] and identified as NBEAL2.[4] NBEAL2 encodes a protein containing a BEACH domain that is predicted to be involved in vesicular trafficking. It is expressed in platelets and megakaryocytes and is required for the development of platelet alpha-granules[5]. NBEAL2 expression is also required for the development of thrombocytes in zebrafish. [6]
[edit] See also
[edit] References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 139090
- ^ Nurden AT, Nurden P (2007). "The gray platelet syndrome: clinical spectrum of the disease". Blood Rev. 21 (1): 21–36. doi:10.1016/j.blre.2005.12.003. PMID 16442192. http://linkinghub.elsevier.com/retrieve/pii/S0268-960X(05)00071-8.
- ^ Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, et al. (December 2010). "Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p". Blood 116 (23): 4990–5001. doi:10.1182/blood-2010-05-286534. PMID 20709904. http://bloodjournal.hematologylibrary.org/cgi/pmidlookup?view=long&pmid=20709904.
- ^ Kahr WH, Hinckley J, Li L, et al. (August 2011). "Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome". Nat. Genet. 43 (8): 738–40. doi:10.1038/ng.884. PMID 21765413.
- ^ Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, et al. (August 2011). "NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules". Nat. Genet. 43 (8): 732–4. doi:10.1038/ng.883. PMID 21765412.
- ^ Albers CA, Cvejic A, Favier R, et al. (August 2011). "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nat. Genet. 43 (8): 735–7. doi:10.1038/ng.885. PMID 21765411.
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