Defective expression of GPlb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome

Haematologica

Volumn 87, Issue 9, 2002, Pages 943-947

  Di Pumpo, Michele ^a   Noris, Patrizia ^a   Pecci, Alessandro ^a   Savoia, Anna ^a   Seri, Marco ^a   Ceresa, Iride F ^a   Balduini, Carlo L ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

GPIb IX V complex; Inherited thrombocytopenias.; May Hegglin anomaly; Platelets; Sebastian syndrome

Indexed keywords

GLYCOPROTEIN; GLYCOPROTEIN IB; GLYCOPROTEIN IX; GLYCOPROTEIN V; MYOSIN; UNCLASSIFIED DRUG; MOLECULAR MOTOR; MYH9 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN; MYOSIN IIA; THROMBIN RECEPTOR;

ARTICLE; BERNARD SOULIER DISEASE; BLEEDING TENDENCY; CLINICAL ARTICLE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; FLOW CYTOMETRY; GENE MUTATION; HUMAN; HUMAN CELL; MAY HEGGLIN ANOMALY; PROTEIN EXPRESSION; SEBASTIAN SYNDROME; THROMBOCYTE COUNT; THROMBOCYTOPENIA; FEMALE; GENETIC PREDISPOSITION; GENETICS; LEUKOCYTE; MALE; METABOLISM; MUTATION; PATHOLOGY; SYNDROME; THROMBOCYTE; THROMBOCYTE DISORDER;

BLOOD PLATELET DISORDERS; BLOOD PLATELETS; FEMALE; FLOW CYTOMETRY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LEUKOCYTES; MALE; MOLECULAR MOTOR PROTEINS; MUTATION; MYOSIN HEAVY CHAINS; NONMUSCLE MYOSIN TYPE IIA; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; SYNDROME; THROMBOCYTOPENIA;

EID: 0036738003     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Greinacher A, Mueller-Eckardt C. Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes. Blut 1990; 60:53-60.
2. Noris P, Spedini P, Belletti S, Magrini U, Balduini CL. Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings. Am J Med 1998; 104:355-60.
3. Martignetti JA, Heath KE, Harris J, Bizzaro N, Savoia A, Balduini CL, et al. The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. Am J Hum Genet 2000; 6:1449-54.
4. Kelley MJ, Jawien W, Ortel TL, Korczak JF. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 2000; 26:106-8.
5. Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Hegglin/Fechtner Syndrome Consortium. Nat Genet 2000; 26:103-5.
6. Kunishima S, Kojima T, Matsushita T, Tanaka T, Tsurusawa M, Furukawa Y, et al. Mutations in the NMMHA-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood 2001; 97:1147-9.
7. 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.
8. 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 2000; 69:1033-45.
9. Seri M, Savino M, Bordo D, Cusano R, Rocca B, Meloni I, et al. Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. Hum Genet 2002; 110:182-6.
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. Sellers JR. Myosins: a diverse superfamily. Biochim Biohphys Acta 2000; 1496:3-22.
12. Maupin P, Phillips CL, Adelstein RS, Pollard TD. Differential localization of myosin-II isozymes in human cultured cells and blood cells. J Cell Sci 1994; 107:3077-90.
13. Pecci A, Noris P, Invernizzi R, Savoia A, Seri M, Ghiggeri G, et al. Immunocytochemistry for the heavy chain of the nonmuscle myosin IIA as a diagnostic tool for MYH9-related disorders. Br J Haematol 2002; 117:164-7.
14. th ed. New York: McGraw-Hill; 2001. p. 1357-408.
15. Savoia A, Balduini C, Savino M, Noris P, Del Vecchio M, Perrotta S, et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a form of heterozygous Bernard-Soulier syndrome. Blood 2001; 97:1330-5.
16. Jantunen E. Inherited giant platelet disorders. Eur J Haematol 1994; 53:191-6.
17. White JG, Sauk JJ. The organization of microtubules and microtubule coils in giant platelet disorders. Am J Pathol 1986; 53:281-5.
18. Coller BS, Zarrabi MH. Ptatelet membrane studies in the May-Hegglin anomaly. Blood 1982; 58:279-84.
19. Fox JE. The platelet cytoskeleton. Thromb Haemost 1993; 70:884-93.
20. Alloisio N, Dalla Venezia N, Rana A, Andrabi K, Texier P, Gilsanz F, et al. Evidence that red blood cell protein p55 may participate in the skeleton-membrane linkage that involves protein 4.1 and glycophorin C. Blood 1993; 82:1323-7.
21. Matsumura K, Lee CC, Caskey CT, Campbell KP. Restoration of dystrophin-associated proteins in skeletal muscle of mdx mice transgenic for dystrophin gene. FEBS Lett 1993; 320: 276-80.
22. Meyer SC, Sanan DA, Fox JE. Role of actin-binding protein in insertion of adhesion receptors into the membrane. J Biol Chem 1998; 273:3013-20.