Compound heterozygosity (554-589 del, C515-T transition) in the platelet glycoprotein Ibα gene in a patient with a severe bleeding tendency

Thrombosis and Haemostasis

Volumn 81, Issue 4, 1999, Pages 486-492

  Margaglione, Maurizio ^a   D'Andréa, Giovanna ^a   Grandone, Elvira ^a   Brancaccio, Vincenzo ^b   Amoriello, Aldo ^b   Di Minno, Giovanni ^c  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b CARDARELLI HOSPITAL   (Italy)

^c IRCCS Casa Sollievo della S ^*

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; ALANINE; FIBRINOGEN RECEPTOR; GLYCOPROTEIN IB; LEUCINE; MONOCLONAL ANTIBODY; NUCLEOTIDE; RISTOCETIN; THROMBOXANE B2; VALINE; VON WILLEBRAND FACTOR;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BERNARD SOULIER DISEASE; BLEEDING TENDENCY; BLOOD SMEAR; CASE REPORT; CLINICAL FEATURE; CODON; FATHER; FEMALE; FLOW CYTOMETRY; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MOTHER; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; THROMBOCYTE; THROMBOCYTE AGGLUTINATION; THROMBOCYTE AGGREGATION;

EID: 0032955854     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1614510     Document Type: Article

References (39)

1. Bernard J, Soulier JP. Sur un nouvelle varieté de dystrophie thrombocytaire hemorragipare congenitale. Sem Hop Paris 1948; 24: 3217-23.
2. Nurden AT, Caen JP. Specific roles for platelel surface glycoproteins in platelet function. Nature 1975; 255: 720-2.
3. Caen J, Nurden AT, Jeanneau C. Michel H, Tobelem G, Levy-Toledano S, Sultan Y, Valensi F, Bernard J. Bernard-Soulier syndrome: a new platelet glycoprotein abnormality. Its relationship with platelet adhesion to subendothelium and with the factor VIII von Willebrand protein. J Lab Clin Med 1976; 87: 586-96.
4. Clemetson KJ, McGregor JL, James E, Dechavanne M, Luscher EF. Characterization of platelet membrane glycoprotein abnormalities in Bernard-Soulier syndrome and comparison with normal by surface-labelling techniques and high-resolution two-dimensional gel electrophoresis. J Clin Invest 1982; 70: 304-11.
5. Ruggieri ZM. The platelet-glycoprotein Ib-IX complex. Progress in: Coller BS (ed). Hemostasis and Thrombosis. Philadelphia: PA Saunders 1991; 35-68.
6. Nurden AT, Didry D, Rosa JP. Molecular defects of platelets in Bernard-Soulier syndrome. Blood Cells 1983; 9: 333-58.
7. Clemetson KJ, Luscher EF. Membrane glycoprotein abnormalities in pathological platelets. Biochem Biophys Ada 1988; 947: 53-73.
8. Brendt MC, Gregory C, Chong BH, Zola H, Castaldi PA. Additional glycoprotein defects in Bernard-Soulier's syndrome: confirmation of genetic basis by parental analysis. Blood 1983; 62: 800-7.
9. Ware J, Russel SR, Marchese P, Murata M, Mazzuccato M, De Marco L, Ruggeri ZM. Point mutation in a leucine-rich repeat of platelet glycoprotein lba resulting in Bernard-Soulier Syndrome. J Clin Invest 1993; 92: 1213-20.
10. Kunishima S, Miura H, Fukutani H, Yoshida H, Osumi K, Kobayashi S, Ohno R, Naoe T. Bernard-Soulier syndrome Kagoshima: Ser444 → stop mutation of glycoprotein (GP) lba resulting in circulating truncated GPIba and surface expression of GPIbβ and GPIX. Blood 1994; 84: 3356-62.
11. Furihata K, Yamamoto N, Yan J, Hasegawa Y, Nagasawa T, Tanoue K. An amino acid substitution of Phe for Leu 126 in a leucin-rich repeat of GPIba associated with a variant form of Bernard-Soulier syndrome. Blood 1994; 84: 476a (abstr).
12. Miller JL, Lyle VA, Cunningham D. Mutation of leucine-57 to phenylalanine in a patient glycoprotein lba leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease. Blood 1992; 79: 439-46.
13. Okumura T, Jamieson GA. Platelet glycocalicin: a single receptor for platelet aggregation induced by thrombin or ristocetin. Thromb Res 1976; 8: 701-6.
14. Solum NO, Hagen I, Peterka M, Gjemdal T. Absence of the 145,000 molecular weight soluble platelet membrane glycoprotein: lack of platelet agglutination. Thromb Haemost 1979; 42: 1626-9.
15. Weiss HJ, Tschopp TB. Baumgartner HR, Sussmann II,. Johnson MM, Egan JJ. Decreased adhesion of giant (Bernard-Soulier) platelets to subendothelium: further implications on the role of the von Willebrand Factor in hemostasis. Am J Med 1974; 57: 920-5.
16. Lopez JA, Chung DW, Fujikawa K, Hagen FS, Papayannopoulou T, Roth GJ. Cloning of the alpha chain of human platelet glycoprotein Ib: a transmembrane protein with homology to leucine-rich alpha2-glycoprotein. Proc Natl Acad Sci USA 1987; 84: 5615-9.
17. Lopez JA, Chung DW, Fujikawa K, Hagen FS, Davie EW, Roth GJ. The alpha and beta chains of human platelet glycoprotein Ib are both transmembrane proteins containing a leucine-rich amino acid sequence. Proc Natl Acad Sci USA 1988; 85: 2135-9.
18. Mickey MJ, Roth GJ. Characterization of the gene encoding human platelet glycoprotein IX. J Biol Chem 268: 1993; 3438-43.
19. Lanza F, Morales M, de La Salle C, Cazaneve JP, Clemetson KJ, Shimomura T, Phillips DR. Cloning and characterization of the gene encoding the human platelet glycoprotein V. J Biol Chem 1993; 268: 20801-7.
20. Roth GJ. Developing relationships: arterial platelet adhesion, glycoprotein Ib, and leucine-rich glycoproteins. Blood 1991; 77: 5-19.
21. Kishimoto TK, Hollander N, Roberts TM, Anderson DC, Springer TA. Heterogeneous mutations in the beta subunit common to the LFA-1. Mac-1 and p 150,95 glycoproteins cause leukocyte adhesion deficiency. Cell 1987; 50: 193-202.
22. Ware J, Russell SR, Vincente V, Scharf RE, Tomer A, McMillan R, Ruggeri ZM. Nonsense mutation in the glycoprotein Ibalpha coding sequence associated with Bernard-Soulier syndrome. Proc Natl Acad Sci USA 1990; 87: 2026-30.
23. De Marco L, Mazzuccato M, Fabris F, De Roia D, Coser P, Girolami A, Vincente V, Ruggeri ZM. Variant Bernard-Soulier Syndrome type Bolzano: a congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex. J Clin Invest 1990; 86: 25-31.
24. Simsek S, Admiral LG, Modderman PW, van der School CE, von dem Borne AEGK. Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Iba causing Bernard-Soulier syndrome. Thromb Haemost 1994; 72: 444-9.
25. Li C, Martin SE, Roth GJ. The genetic defect in two well-studied cases of Bernard-Soulier syndrome: A point mutation in the fifth leucine-rich repeat of platelet glycoprotein Iba. Blood 1995; 86: 3805-14.
26. de la Salle C, Baas M-J, Lanza F, Schwartz A, Hanau D, Chevalier J, Gachet C, Briquel M-E, Cazenave J-P. A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Iba associated with a variant of Bernard-Soulier syndrome (Nancy I). Br J Haematol 1995; 89: 386-96.
27. Simsek S, Noris P, Lozano M, Pico M, von dem Borne AEGKr, Ribera A, Gallardo D. Cys 209 Ser mutation in the platelet membrane glycoprotein Iba gene is associated with Bernard-Soulier syndrome. Br J Haematol 1994; 88: 839-44.
28. Wright SD, Michaelides K, Johnson DJD, West NC, Tuddenham EGD. Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier Syndrome. Blood 1993; 81: 2339-47.
29. Noda M, Fujimura K, Takafuta T, Shimomura T, Fujimoto T, Yamamoto M, Tanoue K, Arai M, Suehiro K, Kakishita E, Kuramoto A. Heterogeneous expression of glycoprotein Ib. IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities. Thromb Haemost 1995; 74: 1411-5.
30. Clemetson JM, Kyrle PA, Brenner B, Clemetson KJ. Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine rich domain in the glycoprotein IX. Blood 1994; 84: 1124-31.
31. Noris P, Simsek S, Stibbe J, von dem Borne AE. A phenylalanine-55 to serine amino-acid substitution homozygous in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. Br J Haematol 1997; 97: 312-20.
32. Ludlow LB, Schick BP, Budarf ML, Driscoll DA, Zackai EH, Cohen A, Konkle BA. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J Biol Chem 1996; 271: 22076-80.
33. Di Minno G, Coraggio F, Cerbone AM, Capitanio AM, Manzo C, Spina M, Scarpato P, Dattoli GM, Mattioli PL, Mancini M. A myeloma paraprotein with specificity for platelet glicoprotein IIIa in a patient with a fatal bleeding disorder. J Clin Invest 1986; 77: 157-64.
34. Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970; 227: 680-5.
35. Stragliotto E, Camera M, Postiglione A, Sirtori M, Di Minno G, Tremoli E. Functionally abnormal monocytes in hypercholesterolemia. Arteriosel Thromb 1993; 13: 944-50.
36. Fijnheer R, Modderman PW, Veldman H, Ouwehand WT, Nieuwenhuis HK, D Ross, de Corte C. Detection of platelet activation with monoclonal antibodies and flow cytometry. Changes during platelet storage. Transfusion 1990; 30: 20-5.
37. Murata M, Ware J, Ruggeri ZM. Site-directed mutagenesis of a soluble recombinant fragment of platelet glycoprotein Iba demonstrating negatively charged residues involved in von Willebrand factor binding. J Biol Chem 1991; 266: 15474-80.
38. Margaglione M, Di Minno G, Grandone E, Vecchione G, Celentano E, Cappucci G, Giordano M, Grilli M, Simone P, Fusilli S, Panico S, Mancini M. Raised plasma fibrinogen concentrations in subjects attending a metabolic ward. Relation to family history and vascular risk factors. Thromb Haemost 1995; 73: 579-83.
39. Margaglione M, D' Andrea G, Cappucci G, Grandone E, Giuliani N, Colaizzo D, Vecchione G, Di Minno G. Detection of factor V Leiden mutation using SSCP. Thromb Haemost 1966; 76: 814-5.