Dominant inheritance of a novel integrin β3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families

Haematologica

Volumn 94, Issue 5, 2009, Pages 663-669

  Gresele, Paolo ^a   Falcinelli, Emanuela ^a   Giannini, Silvia ^a   D'Adamo, Pio ^b   D'Eustacchio, Angela ^b   Corazzi, Teresa ^a   Mezzasoma, Anna Maria ^a   Di Bari, Filomena ^c   Guglielmini, Giuseppe ^a   Cecchetti, Luca ^a   Noris, Patrizia ^d   Balduini, Carlo L ^d   Savoia, Anna ^b  

^a UNIVERSITY OF PERUGIA   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

Author keywords

Glycoprotein IIb IIIa; Megakaryocytopoiesis; Outside in signaling; Thrombocytopenia

Indexed keywords

BETA3 INTEGRIN; FIBRINOGEN; FIBRINOGEN RECEPTOR; RISTOCETIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; FAMILIAL DISEASE; FEMALE; GENE; GENE DELETION; GENE MUTATION; GLANZMANN DISEASE; HAPLOTYPE; HEREDITARY MACROTHROMBOCYTOPENIA; HUMAN; HUMAN CELL; HUMAN TISSUE; ITALY; ITGB3 GENE; THROMBOCYTE AGGREGATION; THROMBOCYTE DYSFUNCTION; THROMBOCYTOPENIA;

BASE SEQUENCE; BLOOD PLATELETS; BLOTTING, WESTERN; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FLOW CYTOMETRY; GENES, DOMINANT; HUMANS; INTEGRIN BETA3; ITALY; MALE; MEMBRANE GLYCOPROTEINS; MICROSCOPY, ELECTRON; PEDIGREE; PLATELET AGGREGATION; POINT MUTATION; THROMBOCYTOPENIA;

EID: 66049160883     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2008.002246     Document Type: Article

References (31)

1. Nurden AT. Glanzmann thrombasthenia. Orphanet J Rare Dis 2006;1:1-8.
2. D'Andrea G, Colaizzo D, Vecchione G, Grandone E, Di Minno G. Margaglione M. Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. Thromb Haemost 2002;87:1034-1042 (Pubitemid 34624887)
3. Hardisty R, Pidard D, Cox A, Nokes T, Legrand C, Bouillot C, et al. A defect of platelet aggregation associated with an abnormal distribution of glycoprotein IIb-IIIa complexes within the platelet: the cause of a lifelong bleeding disorder. Blood 1992;80:696-708.
4. Peyruchaud O, Nurden AT, Milet S, Macchi L, Pannochia A, Bray PF, et al. R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome. Blood 1998;92:4178-4187
5. 3 integrin and co-segregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. Blood 2007;111:3407-3414
6. 3. Blood 2006;108:1509-1514
7. Gresele P, Arnout J, Deckmyn H, Huybrechts E, Pieters G, Vermylen J. Role of proaggregatory and antiaggregatory prostaglandins in hemostasis. Studies with combined thromboxane synthase inhibition and thromboxane receptor antagonism. J Clin Invest 1987;80:1435-1445
8. Balduini CL, Cattaneo M, Fabris F, Gresele P, Iolascon A, Pulcinelli FM, et al. Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine. Haematologica 2003;88:582-592
9. Laffi G, Marra F, Gresele P, Romagnoli P, Palermo A, Bartolini O, et al. Evidence for a storage pool defect in platelets from cirrhotic patients with defective aggregation. Gastroenterology 1992;103:641-646
10. Vezza R, Roberti R, Nenci GG, Gresele P. Prostaglandin E2 potentiates platelet aggregation by priming protein kinase C. Blood 1993;82:2704-2713 (Pubitemid 23318076)
11. Rooney MM, Farrell DH, van Hemel BM, de Groot PG, Lord ST. The contribution of the three hypothesized integrin-binding sites in fibrinogen to platelet-mediated clot retraction. Blood 1998;92:2374-2381 (Pubitemid 28452980)
12. Giannini S, Mezzasoma AM, Leone M, Gresele P. Laboratory diagnosis and monitoring of desmopressin treatment of von Willebrand's disease by flow cytometry. Haematologica 2007; 92:1647-1654 (Pubitemid 350248244)
13. Momi S, Impagnatiello F, Guzzetta M, Caracchini R, Guglielmini G, Olivieri R, et al. NCX 6560, a nitric oxide-releasing derivative of atorvastatin, inhibits cholesterol biosynthesis and shows anti-inflammatory and antithrombotic properties. Eur J Pharmacol 2007;570:115-124
14. 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 Bernard-Soulier syndrome. Blood 2001;97:1330-1335
15. Ciferri S, Emiliani C, Guglielmini G, Orlacchio A, Nenci GG, Gresele P. Platelets release their lysosomal content in vivo in humans upon activation. Thromb Haemost 2000;83:157-164 (Pubitemid 30045492)
16. Giannini S, Mezzasoma A, Guglielmini G, Rossi R, Falcinelli E, Gresele P. A new case of acquired Glanzmann's thrombasthenia: diagnostic value of flow cytometry. Cytometry Part B 2008;74:194-199
17. 3. Blood 2006;107:2728-2735
18. 3 signaling and platelet function. Blood 2004;104: 2368-2375
19. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-3446 (Pubitemid 14122690)
20. Sobel E, Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker sharing statistics. Am J Hum Genet 1996;58:1323-1337 (Pubitemid 26153844)
21. Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE. Mega2: data-handling for facilitating genetic linkage and association analyses. Bioinformatics 2005;21:2556-2557
22. Chomczynsky P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenolchloroform extraction. Anal Biochem 1987;162:156-159 (Pubitemid 17064313)
23. Denis MM, Tolley ND, Bunting M, Schwertz H, Jiang H, Lindemann S, et al. Escaping the nuclear confines: signal dependent pre-mRNA splicing in anucleate platelets. Cell 2005;122:379-391
24. Noris P, Pecci A, Di Bari F, Di Stazio MT, Di Pumpo M, Ceresa IF, et al. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. Haematologica 2004;89:1219-1225
25. Balduini CL, Iolascon A, Savoia A. Inherited thrombocytopenias: from genes to therapy. Haematologica 2002;87:860-880
26. Van Geet C, Freson K, Devos R, Vermylen J. Hereditary thrombocytopenias. In: Gresele P, Page C, Fuster V, Vermylen J, eds. Platelets in thrombotic and non-thrombotic disorders. Cambridge, UK: Cambridge University Press. 2002. p. 515-527
27. 3. J Clin Invest 2005;115:3363-3369
28. Butta N, Arias-Salgado EG, González-Manchón C, Ferrer M, Larrucea S, Ayuso MS, Parrilla R. Disruption of the beta3 663-687 disulfide bridge confers constitutive activity to beta3 integrins. Blood 2003;102:2491-2497
29. Yatuv R, Rosenberg N, Zivelin A, Peretz H, Dardik R, Trakhtenbrot L, et al. Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia. Blood 2001;98: 1063-1069
30. 3 complex. J Clin Invest 1997;100:2393-2403
31. 3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects. Blood 2003;101:3485-3491