Inherited thrombocytopenias

Haematologica

Volumn 92, Issue 9, 2007, Pages 1158-1164

  Nurden, Alan T ^a   Nurden, Paquita ^a  

^a Ctr Geriatrie Ctr Hosp Univ B   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; BERNARD SOULIER DISEASE; BLEEDING; CELL SIZE; CHROMOSOME 10; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; DIGEORGE SYNDROME; EDITORIAL; FECHTNER SYNDROME; GENE MUTATION; GENETIC LINKAGE; GRAY THROMBOCYTE SYNDROME; HEMATOPOIETIC STEM CELL; HUMAN; JACOBSEN SYNDROME; LEUKEMIA; MAY HEGGLIN ANOMALY; MEDITERRANEAN MACROTHROMBOCYTOPENIA; MISSENSE MUTATION; NEPHROTIC SYNDROME; PHENOTYPE; RADIUS APLASIA; SEBASTIAN PLATELET SYNDROME; THROMBOCYTE; THROMBOCYTE ANOMALY; THROMBOCYTE COUNT; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS; VON WILLEBRAND DISEASE; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER;

HUMANS; NEOPLASTIC SYNDROMES, HEREDITARY; THROMBOCYTOPENIA;

EID: 36349023808     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.11256     Document Type: Editorial

References (58)

1. Drachman JG. Inherited thrombocytopenia: when a low platelet count does not mean ITP. Blood 2004;103:390-8.
2. Geddis AE, Kaushansky K. Inherited thrombocytopenias: toward a molecular understanding of disorders of platelet production. Curr Opin Pediatr 2004; 16:15-22.
3. Behrens WE: Mediterranean macrothrombocytopenia. Blood 1975; 46:199-208.
4. Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bemard-Soulier syndrome. Blood 2001;97:1330-5.
5. Nurden AT, Nurden P. Inherited disorders of platelet function. In: Michelson AD, ed. Platelets (edition 2). Elsevier Science (USA), 2007;1025-50.
6. Kelly RG, Jerome-Majewska LA, Papaioannou VE. The del 22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis. Hum Mol Genet 2004; 13:2829-40.
7. Lawrence S, McDonald-McGinn DM, Zackai E, Sullivan KE. Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. J Pediatr 2003; 143:277-8.
8. Kato T, Kosaka K, Kimura M, Imamura S, Yamada O, Iwai K, et al. Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-β. Genet Med 2003; 5:113-9.
9. Kunishima S, Saito H. Congenital macrothrombocytopenia. Blood Reviews 2006; 20:111-21.
10. Arrondel C, Vodovar N, Knebelmann B, Grunfeld JP, Gubler MC, Antignac C, et al. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. J Am Soc Nephrol 2002; 13:65-74.
11. Nurden P, Nurden A. Giant platelets, megakaryocytes and the expression of glycoprotein Ib-IX complexes. CR Acad Sci Paris 1996; 319:717-26.
12. Kelley MJ, Jawien W, Ortel TL, Korczak JF. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nature Genet 2000; 26:106-8.
13. Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, et al. Nonmuscle myosin heavy chain IIa mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet 2001; 69:1033-45.
14. Hu A, Wang F, Sellers JR: Mutations in human nonmuscle myosin IIA found in patients with May Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. J Biol Chem 2002: 277;46512-7.
15. Marigo V, Nigro A, Pecci A, Montanaro D, Di Stazio M, Balduini CL, et al. Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains. Genomics 2004;83:1125-33.
16. Kunishima S, Matsushita T, Kojima T, Amemiya N, Choi YM, Hosaka N, et al. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet 2001; 46:722-9.
17. Chen Z, Naveiras O, Balduini AA, Mammoto A, Conti MA, Adelstein RS, et al. The May-Hegglin anomaly gene Myh9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. Blood 2007;110:171-9.
18. Chang Y, Aurade F, Larbret F, Zhang H, Le Couedic JP, Mormeux L, et al. Proplatelet formation is regulated by the Rho/ROCK pathway. Blood 2007;109:4229-367
19. Ghiggarei GM, Caridi G, Magrini U, Sessa A, Savoia A, Seri M, et al. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis 2003; 41:95-104.
20. Toren A, Rozenfeld-Granot G, Heath KE, Amariglio N, Rocca B, Crosson J, et al. MYH9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association with fibulin-1 variant-D inactivation. Am J Hematol 2003;74:254-62.
21. Nurden P, Debili N, Vainchenker W, Bobe R, Bredoux R, Corvazier E, et al. Impaired megakaryocytopoiesis in type 2B Willebrand disease with severe thrombocytopenia. Blood 2006;108:2587-95.
22. Bithell TC, Didisheim P, Cartwright GE, Winthrobe MM. Thrombocytopenia inherited as an autosomal dominant trait. Blood 1965;25:231-40.
23. Gandhi MJ, Cummings CL, Drachman JG. FLJ14813 missense mutation; a candidate for autosomal dominant thrombocytopenia on human chromosome 10. Hum Hered 2003;55:66-70.
24. Ho CY, Otterud B, Lagare RD, Varvil T, Saxena R, DeHart DB, et al. Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2. Hum Mol Genet 1996; 4:763-6.
25. Song W-J, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nature Genet 1999;29:166-75.
26. Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 2002;99:1364-72.
27. Sun L, Gorospe JR, Hoffman EP, Rao AK. Decreased platelet expression or myosin regulatory light chain polypeptide (MYL9) and other genes with platelet dysfunction and CBFA2/RUNX1 mutation: insights from platelet expression profiling. J Thromb Haemost 2007;5:146-54.
28. Nurden AT, Nurden P. The Gray platelet syndrome: Clinical spectrum of the disease. Blood Reviews 2007;21:21-36.
29. Nurden P, Jandrot-Perrus M, Combrie R, Winckler J, Arocas V, Lecut C, et al. Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. Blood 2004;104:107-14.
30. Falik-Zaccai T, Anikster Y, Rivera CE, Horne MK, Schliamser L, Phornphutkul C et al. A new genetic isolate of gray platelet syndrome (GPS): Clinical, cellular and hematologic characteristics. Mol Genet Metab 2001;74:303-13.
31. Tubman VN, Levine JE, Campagna DR, Monahan-Earley R, Dvorak AM, Neufeld EJ, et al. X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. Blood 2007; 109:3297-9.
32. Zhu QL, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression and phenotype. Blood 1997;90:2680-9.
33. Imai K, Morio T, Jin Y, Itoh S, Kajiwara M, Yata J, et al. Clinical course of patients with WASP gene mutations. Blood 2004;103:456-64.
34. Kim AS, Kakalis LT, Abdul-Manan N, Liu GA, Rosen MK: Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein. Nature 2000;404:151-8.
35. Sabri S, Foudi A, Boukour S, Franc B, Charrier S, Jandrot-Perrus M, et al. Defiency in the Wiskott-Aldrich syndrome protein induces premature proplatelet formation and platelet production in the bone marrow compartment. Blood 2006; 108:134-40.
36. Charrier S, Dupré L, Scaramuzza S, Jeanson-Leh L, Blundell MP, Danos O, et al. Lentiviral vectors targeting WASp expression to hematopoietic cells, efficiently transduce and correct cells from WAS patients. Gene Ther 2007;14:415-28.
37. Favier R, Jondeau K, Boutard P, Grossfeld P, Reinert P, Jones C, et al. Paris-Trousseau syndrome: clinical, hematological, molecular data of ten new cases. Thromb Haemost 2003; 90:893-7.
38. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet 2004;129:51-61.
39. Wang X, Crispino JD, Letting DL, Nakazawa M, Poncz M, Blobel GA. Control of megakaryocyte-specific gene expression by GATA-1 and FOG-1: role of Ets transcription factors. EMBO J 2002;21:5225-34.
40. Eisbacher M, Holmes ML, Newton A, Hogg PJ, Khachigian LM, Crossley M, Chong BH. Protein-protein interaction between Fli-1 and GATA-1 mediates synergistic expression of megakaryocyte-specific genes through cooperative DNA binding. Mol Cell Biol 2003;23:3427-41.
41. Raslova H, Komura E, Le Couédic JP, Larbret F, Debili N, Feunteun J, et al. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest 2004; 114:77-84.
42. Ballmaier M, Germeshausen M, Schulze H, Cherkaoui K, Lang S, Gaudig A, et al. c-Mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood 2001; 97:139-46.
43. Germeshausen M, Ballmaier M, Weite K: MPL mutations in 23 patients suffering from congenital amegakaryocyte thrombocytopenia: the type of mutation predicts the course of the disease. Hum Mutat 2006;27:296.
44. Savoia A, Dufour C, Locatelli F, Noris P, Ambaglio C, Rosti V et al. Congenital amegakaryocytic thrombocytopenia: Clinical and biological consequences of five novel mutations. Haematologica 2007;92:1186-93.
45. Thompson AA, Nguyen LT. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nature Genet 2000;26:397-8.
46. Thompson AA, Woodruff K, Feig SA, Nguyen JT, Schanen NC. Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome. Br J Haematol 2001; 113:866-70.
47. Horvat-Switzer RD, Thompson AA. HOXA11 mutation in amegakaryocytic thrombocytopenia with radio-ulnar synostosis syndrome inhibits megakaryocyte differentiation in vitro. Blood Cells Mol Dis 2006;37:55-63.
48. Cantor AB. GATA transcription factors in hematologic disease. Int J Hematol 2005;81:378-84.
49. Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 2000;24:266-70.
50. Freson K, Matthijs G, Thys C, Marien P, Hoylaerts MF, Vermylen J, et al. Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Hum Mol Genet 2002;11:147-52.
51. Yu C, Niakan KK, Matsushita M, Stamatocyannopoulos G, Orkin SH, Raskind WH. X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood 2002;100:2040-5.
52. Shimiza R, Ohneda K, Engel JD, Trainor CD, Yamamoto M. Transgenic rescue of GATA-1-deficient mice with GATA-1 lacking a FOG-1 association site phenocopies patients with X-linked thrombocytopenia. Blood 2004;103:2560-7.
53. Geddis AE. Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thromboocytopenia with absent radii. Semin Hematol 2006;43:196-203.
54. Ballmaier M, Schulze H, Cremer M, Folman CC, Strauss G, Weite K. Defective c-Mpl signaling in the syndrome of thrombocytopenia with absent radii. Stem Cells 1998;16 Suppl2:177-84.
55. Letestu R, Vitrat N, Massé A, Le Couedic JP, Lazar V, Rameau P, et al. Existence of a differential blockage at the stage of amegakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome. Blood 2000;95:1633-41.
56. Mason KD, Carpinelli MR, Fletcher JI, Collinge JE, Hilton AA, Ellis S, et al. Programmed anuclear cell death delimits platelet lifespan. Cell 2007;128:31173-86.
57. Alexander WS, Viney EM, Zhang J-G, Metcalf D, Kauppi M, Hyland CD, et al. Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene. Proc Natl Acad Sci USA 2006;103:16442-7.
58. Kile BT, Panapoulis AD, Stirzaker RA, Hacking DF, Tahtamouni LH, Willson TA, et al. Mutations in the cofilin partner Aip/Wdr1 cause autoinflammatory disease and macrothrombocytopenia. Blood 2007 May 21; [Epub ahead of print].