A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder

Journal of Thrombosis and Haemostasis

Volumn 7, Issue 8, 2009, Pages 1356-1363

  Hermans, C ^a   Wittevrongel, C ^b   Thys, C ^b   Smethurst, P A ^c   Van Geet, C ^b,d   Freson, Kathleen ^b  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Bleeding disorder; Collagen signaling; GPVI; Platelets

Indexed keywords

ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE; COLLAGEN; CONVULXIN; FC RECEPTOR; GLYCOPROTEIN; GLYCOPROTEIN IX; GLYCOPROTEIN VI; INTEGRIN; INTEGRIN ALPHA2B BETA3; PADGEM PROTEIN; UNCLASSIFIED DRUG; VERY LATE ACTIVATION ANTIGEN 2;

ADULT; ARTICLE; BINDING AFFINITY; BLEEDING DISORDER; CASE REPORT; CELL GRANULE; CELL LEVEL; CELL SECRETION; CONTROLLED STUDY; FEMALE; FLOW CYTOMETRY; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IN VITRO STUDY; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DEFECT; PROTEIN DOMAIN; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE ADHESION; THROMBOCYTE AGGREGATION; THROMBOCYTE DISORDER; THROMBOGENESIS; WILD TYPE;

ADULT; BLOOD COAGULATION DISORDERS; CROTALID VENOMS; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; LECTINS, C-TYPE; MUTATION; PLATELET AGGREGATION; PLATELET MEMBRANE GLYCOPROTEINS; PROTEIN BINDING; RECEPTORS, IGE;

EID: 67949091190     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2009.03520.x     Document Type: Article

References (27)

1. Clemetson JM, Polgar J, Magnenat E, Wells TN, Clemetson KJ. The platelet collagen receptor glycoprotein VI is a member of the immunoglobulin superfamily closely related to FcalphaR and the natural killer receptors. J Biol Chem 1999; 274: 29019-24.
2. Jandrot-Perrus M, Busfield S, Lagrue AH, Xiong X, Debili N, Chickering T, Le Couedic JP, Goodearl A, Dussault B, Fraser C, Vainchenker W, Villeval JL. Cloning, characterization, and functional studies of human and mouse glycoprotein VI: A platelet-specific collagen receptor from the immunoglobulin superfamily. Blood 2000; 96: 1798-807.
3. Moroi M, Jung SM, Okuma M, Shinmyozu K. A patient with platelets deficient in glycoprotein VI that lack both collagen-induced aggregation and adhesion. J Clin Invest 1989; 84: 1440-5.
4. Martin AM, Kulski JK, Witt C, Pontarotti P, Christiansen FT. Leukocyte Ig-like receptor complex (LRC) in mice and men. Trends Immunol 2002; 23: 81-8.
5. Andrews RK, Gardiner EE, Asazuma N, Berlanga O, Tulasne D, Nieswandt B, Smith AI, Berndt MC, Watson SP. A novel viper venom metalloproteinase, alborhagin, is an agonist at the platelet collagen receptor GPVI. J Biol Chem 2001; 276: 28092-7.
6. Nieswandt B, Watson SP. Platelet-collagen interaction: Is GPVI the central receptor? Blood 2003; 102: 449-61.
7. Polgár J, Clemetson JM, Kehrel BE, Wiedemann M, Magnenat EM, Wells TN, Clemetson KJ. Platelet activation and signal transduction by convulxin, a C-type lectin from Crotalus durissus terrificus (tropical rattlesnake) venom via the p62/GPVI collagen receptor. J Biol Chem 1997; 272: 13576-83.
8. Inoue O, Suzuki-Inoue K, McCarty OJ, Moroi M, Ruggeri ZM, Kunicki TJ, Ozaki Y, Watson SP. Laminin stimulates spreading of platelets through integrin alpha6beta1-dependent activation of GPVI. Blood 2006; 107: 1405-12.
9. Sugiyama T, Okuma M, Ushikubi F, Sensaki S, Kanaji K, Uchino H. A novel platelet aggregating factor found in a patient with defective collagen-induced platelet aggregation and autoimmune thrombocytopenia. Blood 1987; 69: 1712-20.
10. Arthur JF, Dunkley S, Andrews RK. Platelet glycoprotein VI-related clinical defects. Br J Haematol 2007; 139: 363-72.
11. Freson K, De Vos R, Wittevrongel C, Thys C, Defoor J, Vanhees L, Vermylen J, Peerlinck K, Van Geet C. The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure. Blood 2005; 106: 2356-62.
12. Chen H, Locke D, Liu Y, Liu C, Kahn ML. The platelet receptor GPVI mediates both adhesion and signaling responses to collagen in a receptor density-dependent fashion. J Biol Chem 2002; 277: 3011-9.
13. Freson K, Jaeken J, Van Helvoirt M, de Zegher F, Wittevrongel C, Thys C, Hoylaerts MF, Vermylen J, van Geet C. Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation. Hum Mol Genet 2003; 12: 1121-30.
14. Freson K, Devriendt K, Matthijs G, van Hoof A, De Vos R, Thys C, Minner K, Hoylaerts MF, Vermylen J, van Geet C. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood 2001; 98: 85-92.
15. Lecut C, Schoolmeester A, Kuijpers MJ, Broers JL, van Zandvoort MA, Vanhoorelbeke K, Deckmyn H, Jandrot-Perrus M, Heemskerk JW. Principal role of glycoprotein VI in alpha2beta1 and alphaIIbbeta3 activation during collagen-induced thrombus formation. Arterioscler Thromb Vasc Biol 2004; 24: 1727-33.
16. Saelman EU, Hese KM, Nieuwenhuis HK, Uzan A, Cavero I, Marguerie G, Sixma JJ, de Groot PG. Aggregate formation is more strongly inhibited at high shear rates by dRGDW, a synthetic RGD-containing peptide. Arterioscler Thromb 1993; 13: 1164-70.
17. Croft SA, Samani NJ, Teare MD, Hampton KK, Steeds RP, Channer KS, Daly ME. Novel platelet membrane glycoprotein VI dimorphism is a risk factor for myocardial infarction. Circulation 2001; 104: 1459-63.
18. Joutsi-Korhonen L, Smethurst PA, Rankin A, Wilson E, Jennings NS, Garner SF, Zhang Y, Knight CG, Dafforn TR, Buckle A, IJsseldijk MJ, De Groot PG, Watkins NA, Farndale RW, Ouwehand WH. The low-frequency allele of the platelet collagen signaling receptor glycoprotein VI is associated with reduced functional responses and expression. Blood 2003; 101: 4372-9.
19. Watkins NA, O'Connor MN, Rankin A, Jennings N, Wilson E, Harmer IJ, Davies L, Smethurst PA, Dudbridge F, Farndale RW, Ouwehand WH. Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populations by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms. J Thromb Haemost 2006; 4: 1197-205.
20. Dunkley S, Arthur JF, Evans S, Gardiner EE, Shen Y, Andrews RK. A familial platelet function disorder associated with abnormal signalling through the glycoprotein VI pathway. Br J Haematol 2007; 137: 569-77.
21. Fan QR, Mosyak L, Winter CC, Wagtmann N, Long EO, Wiley DC. Structure of the inhibitory receptor for human natural killer cells resembles haematopoietic receptors. Nature 1997; 389: 96-100.
22. Arthur JF, Shen Y, Kahn ML, Berndt MC, Andrews RK, Gardiner EE. Ligand binding rapidly induces disulfide-dependent dimerization of glycoprotein VI on the platelet plasma membrane. J Biol Chem 2007; 282: 30434-41.
23. Berlanga O, Bori-Sanz T, James JR, Frampton J, Davis SJ, Tomlinson MG, Watson SP. Glycoprotein VI oligomerization in cell lines and platelets. J Thromb Haemost 2007; 5: 1026-33.
24. Moroi M, Jung SM, Shinmyozu K, Tomiyama Y, Ordinas A, Diaz-Ricart M. Analysis of platelet adhesion to a collagen-coated surface under flow conditions: The involvement of glycoprotein VI in the platelet adhesion. Blood 1996; 88: 2081-92.
25. Ollikainen E, Mikkelsson J, Perola M, Penttilä A, Karhunen PJ. Platelet membrane collagen receptor glycoprotein VI polymorphism is associated with coronary thrombosis and fatal myocardial infarction in middle-aged men. Atherosclerosis 2004; 176: 95-9.
26. Takagi S, Iwai N, Baba S, Mannami T, Ono K, Tanaka C, Miyata T, Miyazaki S, Nonogi H, Goto Y. A GPVI polymorphism is a risk factor for myocardial infarction in Japanese. Atherosclerosis 2002; 165: 397-8.
27. Bezemer ID, Bare LA, Doggen CJ, Arellano AR, Tong C, Rowland CM, Catanese J, Young BA, Reitsma PH, Devlin JJ, Rosendaal FR. Gene variants associated with deep vein thrombosis. JAMA 2008; 299: 1306-14.