Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients

Thrombosis and Haemostasis

Volumn 98, Issue 6, 2007, Pages 1298-1308

  Liang, Hai Po Helena ^a,b   Morel Kopp, Marie Christine ^a,b   Curtin, Julie ^c   Wilson, Meredith ^c   Hewson, John ^d   Chen, Walter ^a,b   Ward, Christopher M ^a,b  

^a UNIVERSITY OF SYDNEY   (Australia)

^b ROYAL NORTH SHORE HOSPITAL   (Australia)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d WESTMEAD HOSPITAL   (Australia)

Author keywords

GPIb; Inherited platelet disorder; Platelet function; Velocardiofacial syndrome

Indexed keywords

GLYCOPROTEIN; GLYCOPROTEIN IB; GLYCOPROTEIN IB ALPHA; GLYCOPROTEIN IB BETA; GLYCOPROTEIN IX; GLYCOPROTEIN V; RISTOCETIN; THROMBIN RECEPTOR ACTIVATING PEPTIDE; THROMBOCYTE RECEPTOR; UNCLASSIFIED DRUG;

ALLELE; ANALYZER; ARTICLE; BLEEDING TENDENCY; CELL STRUCTURE; CLINICAL ARTICLE; CONTROLLED STUDY; FLOW CYTOMETRY; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; IN VITRO STUDY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN CONTENT; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; SURGICAL RISK; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTE FUNCTION; THROMBOCYTE VOLUME; VELOCARDIOFACIAL SYNDROME; WESTERN BLOTTING;

BLOTTING, WESTERN; DIGEORGE SYNDROME; DNA MUTATIONAL ANALYSIS; FLOW CYTOMETRY; GENOTYPE; HEMORRHAGE; HUMANS; LOSS OF HETEROZYGOSITY; PEPTIDE FRAGMENTS; PHENOTYPE; PLATELET AGGREGATION; PLATELET COUNT; PLATELET FUNCTION TESTS; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; RISTOCETIN;

EID: 36949010142     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH07-05-0350     Document Type: Article

References (33)

1. Lindsay EA. Chromosomal microdeletions: Dissecting de122q11 syndrome. Nat Rev Genet 2001; 2: 858-868.
2. McQuade L, Christodoulou J, Budarf M, et al. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am J Med Genet 1999; 86: 27-33.
3. Yamagishi H, Srivastava D. Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome. Trends Mol Med 2003; 9: 383-389.
4. Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet 2000; 9: 2421-2426.
5. Sandrin-Garcia P, Macedo C, Martelli LR, et al. Recurrent 22q11.2 deletion in a sibship suggestive of parental gernline mosaicism in velocardiofacial syndrome. Clin Genet 2002; 61: 380-383.
6. Cuneo BF. 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr 2001; 13: 465-472.
7. Henwood J, Pickard C, Leek JP, et al. A region of homozygosity within 22q11.2 associated with congenital heart disease: Recessive DiGeorge/ velocardiofacial syndrome? J Med Genet 2001; 38: 533-536.
8. Pallotta R, Evangelista V, Margaglione M, et al. Macrothrombocytopenia in velocardiofacial syndrome. J Thromb Haemost 2005; 3: 601-603.
9. Berndt MC, Shen Y, Dopheide SM, et al. The vascular biology of the glycoprotein Ib-IX-V complex. Thromb Haemost 2001; 86: 178-188.
10. Adam F, Bouton M-C, Huisse M-G, et al. Thrombin interaction with platelet membrane glycoprotein Ibβ. Trends Mol Med 2003; 9: 461-464.
11. Celikel R, McClintock RA, Roberts JR, et al. Modulation of α-thrombin function by distinct interactions with platelet glycoprotein Ibβ. Science 2003; 301: 218-221.
12. López JA, Andrews RK, Afshar-Kharghan V, et al. Bernard-Soulier syndrome. Blood 1998; 91: 4397-4418.
13. Budarf ML, Konkle BA, Ludlow LB, et al. Identification of a patient with Bernard-soulier syndrome and a deletion in the DiGeorge/ velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet 1995; 4: 763-766.
14. Kenny D, Morateck PA, Gill JC, et al. The critical interaction of glycoprotein (GP) Ibβ with GPIX - a genetic cause of Bernard-Soulier syndrome. Blood 1999; 93: 2968-2975.
15. Ludlow LB, Schick BP, Budarf ML, et al. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibβ promoter resulting in the Bernard-Soulier syndrome. J Biol Chem 1996; 271: 22076-22080.
16. Hillmann A, Nurden A, Nurden P, et al. A novel hemizygous Bernard-soulier syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibβ - platelet characterization and transfection studies. Thromb Haemost 2002; 88: 1026-1032.
17. Tang J, Stern-Nezer S, Liu P-C, et al. Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ibβ impairs assembly of von Willebrand factor receptor. Thromb Haemost 2004; 92: 75-88.
18. Nakagawa M, Okuno M, Okamoto N, et al. Brief clinical report: Bernard-Soulier syndrome associated with 22q11.2 microdeletion. Am J Med Genet 2001; 99: 286-288.
19. Iascone MR, Sacchelli M, Vittorini S, et al. Complex conotruncal heart defect, severe bleeding disorder and 22q11 deletion: A new case of Bernard-soulier syndrome and of 22q11 deletion syndrome? Ital Heart J 2001; 2: 475-477.
20. Van Geet C, Devriendt K, Eyskens B, et al. Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets. Pediatr Res 1998; 44: 607-611.
21. Shprintzen RJ. Velocardiofacial syndrome. Otolaryngol Clin North Am 2000; 33: 1217-1240.
22. Mammen EF, Comp PC, Gosselin R, et al. PFA-100™ system: A new method for assessment of platelet dysfunction. Semin Thromb Hemost 1998; 24: 195-202.
23. Kottke-Marchant K, Corcoran G. The laboratory diagnosis of platelet disorder: An algorithmic approach. Arch Pathol Lab Med 2002; 126: 133-146.
24. McNicol A, Robson CA. Thrombin receptor-activating peptide releases arachidonic acid from human platelets: A comparison with thrombin and trypsin. J Pharmacol Exp Ther 1997; 281: 861-867.
25. Fusté B, Díaz-Ricart M, Jensen MK, et al. Trap induces more intense tyrosine phosphorylation than thrombin with differential ultrastructural features. Am J Pathol 2002; 160: 2245-2252.
26. 3 activation both in platelets and a transfected Chinese hamster ovary cell system. J Biol Chem 2000; 275: 16779-16787.
27. Perrault C, Mangin P, Santer M, et al. Role of the intracellular domains of GPIb in controlling the adhesive properties of the platelet GPIb/V/IX complex. Blood 2003; 101: 3477-3484.
28. Yuan Y, Kulkarni S, Ulsemer R et al. The von Willebrand factor-glycoprotein Ib/V/IX interaction induces actin polymerization and cytoskeletal reorganization in rolling platelets and glycoprotein Ib/V/ IX-transfected cells. J Biol Chem 1999; 274: 36241-36251.
29. Gonzalez-Manchon C, Butta N, Iruin G, et al. Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibβ prevents the normal maturation and surface exposure of GPIb-IX complexes. Thromb Haemost 2003; 90: 456-464.
30. Kurokawa Y, Ishida F, Kamijo T, et al. A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibβ gene affects GP Ib/IX complex expression. Thromb Haemost 2001; 86: 1249-1256.
31. Moran N, Morateck PA, Deering A, et al. Surface expression of glycoprotein Ibβ is dependent on glycoprotein Ibβ: Evidence from a novel mutation causing Bernard-Soulier syndrome. Blood 2000; 96:532-539.
32. Watanabe D, Barlow DP. Random and imprinted monoallelic expression. Genes Cells 1996; 1: 795-802.
33. Maynard TM, Haskell GT, Lieberman JA, et al. 22q11 DS: Genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome. Int J Dev Neurosci 2002; 20: 407-419.