Grey platelet syndrome: Difference between revisions
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==Overview== | ==Overview== | ||
''' | '''Gray platelet syndrome''' (GPS), or '''platelet alpha-granule deficiency''',<ref name=omim>{{OMIM|139090}}</ref> is a rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alpha-granules in [[blood platelet]]s, and the release of [[protein]]s normally contained in these granules into the marrow, causing [[myelofibrosis]].<ref>{{cite journal |author=Nurden AT, Nurden P |title=The gray platelet syndrome: clinical spectrum of the disease |journal=[[Blood Rev.]] |volume=21 |issue=1 |pages=21–36 |year=2007 |pmid=16442192 |doi=10.1016/j.blre.2005.12.003 |url=http://linkinghub.elsevier.com/retrieve/pii/S0268-960X(05)00071-8}}</ref> | ||
GPS is primarily inherited in an [[autosomal recessive]] manner, and the gene that is mutated in GPS has recently been mapped to chromosome 3p<ref>{{cite journal |vauthors=Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, etal |title=Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p |journal=Blood |volume=116 |issue=23 |pages=4990–5001 |date=December 2010 |pmid=20709904 |doi=10.1182/blood-2010-05-286534 |url=http://bloodjournal.hematologylibrary.org/cgi/pmidlookup?view=long&pmid=20709904 |pmc=3012593}}</ref> and identified as ''NBEAL2''.<ref>{{cite journal |vauthors=Kahr WH, Hinckley J, Li L, etal |title=Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome |journal=Nat. Genet. |volume=43 |issue=8 |pages=738–40 |date=August 2011 |pmid=21765413 |doi=10.1038/ng.884 }}</ref> ''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.<ref>{{cite journal |vauthors=Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, etal |title=NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules |journal=Nat. Genet. |volume=43 |issue=8 |pages=732–4 |date=August 2011 |pmid=21765412 |doi=10.1038/ng.883 |pmc=3154019}}</ref> ''NBEAL2'' expression is also required for the development of thrombocytes in zebrafish.<ref>{{cite journal |vauthors=Albers CA, Cvejic A, Favier R, etal |title=Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome |journal=Nat. Genet. |volume=43 |issue=8 |pages=735–7 |date=August 2011 |pmid=21765411 |doi=10.1038/ng.885 |pmc=3428934}}</ref> | |||
GPS is characterized by "[[thrombocytopenia]], and abnormally large agranular platelets in peripheral blood smears."<ref name="pmid8192152">{{cite journal |author=Jantunen E, Hänninen A, Naukkarinen A, Vornanen M, Lahtinen R |title=Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature |journal=Am. J. Hematol. |volume=46 |issue=3 |pages=218–24 |date=July 1994 |pmid=8192152 |doi=10.1002/ajh.2830460311 |url=}}</ref> The defect in GPS is the failure of [[megakaryocyte]]s to package secretory proteins into alpha-granules. Patients with the GPS are affected by mild to moderate bleeding tendencies. | |||
==See also== | ==See also== | ||
*[[Pseudo gray platelet syndrome]] | *[[Pseudo gray platelet syndrome]] | ||
==References== | |||
{{reflist|2}} | |||
==External links== | ==External links== | ||
* {{ | *{{RareDiseases|2562|Gray platelet syndrome}} | ||
{{Hematology}} | {{Hematology}} | ||
[[Category:Rare diseases]] | |||
[[Category:Syndromes]] | |||
{{ | {{genetic-disorder-stub}} | ||
Revision as of 14:30, 10 September 2015
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Gray platelet syndrome (GPS), or platelet alpha-granule deficiency,[1] is a rare congenital autosomal recessive 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]
GPS is characterized by "thrombocytopenia, and abnormally large agranular platelets in peripheral blood smears."[7] The defect in GPS is the failure of megakaryocytes to package secretory proteins into alpha-granules. Patients with the GPS are affected by mild to moderate bleeding tendencies.
See also
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.
- ↑ 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. PMC 3012593. 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. PMC 3154019. 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. PMC 3428934. PMID 21765411.
- ↑ Jantunen E, Hänninen A, Naukkarinen A, Vornanen M, Lahtinen R (July 1994). "Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature". Am. J. Hematol. 46 (3): 218–24. doi:10.1002/ajh.2830460311. PMID 8192152.