Type 2M: Milwaukee-1 von Willebrand disease: An in-frame deletion in the Cys509-Cys695 loop of the von Willebrand factor A1 domain causes deficient binding of von Willebrand factor to platelets

Blood

Volumn 88, Issue 7, 1996, Pages 2559-2568

  Mancuso, David J ^b   Kroner, Philip A ^a   Christopherson, Pamela A ^b   Vokac, Elizabeth A ^b   Gill, Joan Cox ^b   Montgomery, Robert R ^b  

^a BLOOD RESEARCH INSTITUTE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

VON WILLEBRAND FACTOR;

ARTICLE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; HUMAN; PRIORITY JOURNAL; THROMBOCYTE ADHESION; VON WILLEBRAND DISEASE;

EID: 0029796142     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v88.7.2559.bloodjournal8872559     Document Type: Article

References (46)

1. Rodeghiero F, Castaman G, Dini E: Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 69:454, 1987
2. Sadler JE: A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 71:520, 1994
3. Ginsburg D, Sadler JE: von Willebrand disease: A database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 69:177, 1993
4. Holmberg L, Dent JA, Schneppenheim R, Budde U, Ware J, Ruggeri ZM: von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. J Clin Invest 91:2169, 1993
5. Rabinowitz I, Randi AM, Shindler KS, Tuley EA, Rustagi PK, Sadler JE: Type IIB mutation His-505->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib. J Biol Chem 268:20497, 1993
6. Hilbert L, Gaucher C, de Romeuf C, Horellou MH, Vink T, Mazurier C: Leu 697->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease. Blood 83:1542, 1994
7. Hilbert L, Gaucher C, Mazurier C: Effects of different aminoacids substitutions in the leucine 694-proline708 segment of recombinant von Willebrand factor. Br J Haematol 91:983, 1995
8. Ribba AS, Christophe O, Derlon A, Cherel G, Siguret V, Lavergne JM, Girma JP, Meyer D, Pietu G: Discrepancy between IIA phenotype and IIB genotype in a patient with a variant of von Willebrand disease. Blood 83:833, 1994
9. Ribba A-S, Siguret V, Cherel G, Christophe BO, Nishikubo T, Girma J-P, Pietu G, Meyer D: Cysteines 509 and 695 of von Willebrand factor play a distinct role in the binding to platelet glycoprotein Ib. Thromb Haemost 76:1159, 1995
10. Gemmati D, Serino ML, Moratelli S, Ballerini G, Furbetta M, Lunghi B, Marchetti G, Bernardi F: A novel mutation (Leu817Pro) causing type 2A von Willebrand disease. Br J Haematol 92:241, 1996
11. Lyons SE, Bruck ME, Bowie EJ, Ginsburg D: Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations. J Biol Chem 267:4424, 1992
12. Fujimura Y, Titani K, Holland LZ, Russell SR, Roberts JR, Elder JH, Ruggeri ZM, Zimmerman TS: von Willebrand factor. A reduced and alkylated 52/48-kDa fragment beginning at amino acid residue 449 contains the domain interacting with platelet glycoprotein Ib. J Biol Chem 261:381, 1986
13. Fujimura Y, Titani K, Holland LZ, Roberts JR, Kostel P, Ruggeri ZM, Zimmerman TS: A heparin-binding domain of human von Willebrand factor. Characterization and localization to a tryptic fragment extending from amino acid residue Val-449 to Lys-728. J Biol Chem 262:1734, 1987
14. Andrews RK, Gorman JJ, Booth WJ, Corino GL, Castaldi PA, Berndt MC: Cross-linking of a monomeric 39/34-kDa dispase fragment of von Willebrand factor (Leu-480/Val-481-Gly-718) to the N-terminal region of the alpha-chain of membrane glycoprotein Ib on intact platelets with bis(sulfosuccinimidyl) suberate. Biochemistry 28:8326, 1989
15. Rabinowitz I, Tuley EA, Mancuso DJ, Randi AM, Firkin BG, Howard MA, Sadler JE: von Willebrand disease type B: A missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib. Proc Natl Acad Sci USA 89:9846, 1992
16. Ruggeri ZM, Zimmerman TS: The complex multimeric composition of factor VIII/von Willebrand factor. Blood 57:1140, 1981
17. Ruggeri ZM, Zimmerman TS: Variant von Willebrand's disease: Characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. J Clin Invest 65:1318, 1980
18. Zimmerman TS, Hoyer LW, Dickson L, Edgington TS: Determination of the von Willebrand's disease antigen (factor VIII-related antigen) in plasma by quantitative immunoelectrophoresis. J Lab Clin Med 86:152, 1975
19. Abildgaard CF, Suzuki Z, Harrison J, Jefcoat K, Zimmerman TS: Serial studies in von Willebrand's disease: Variability versus "variants". Blood 56:712, 1980
20. Kroner PA, Kluessendorf ML, Scott JP, Montgomery RR: Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets. Blood 79:2048, 1992
21. Bonthron D, Orr EC, Mitsock LM, Ginsburg D, Handin RI, Orkin SH: Nucleotide sequence of pre-pro-von Willebrand factor cDNA. Nucleic Acids Res 14:7125, 1986
22. Mancuso DJ, Tuley EA, Westfield LA, Worrall NK, Shelton-Inloes BB, Sorace JM, Alevy YG, Sadler JE: Structure of the gene for human von Willebrand factor. J Biol Chem 264:19514, 1989
23. Mancuso DJ, Tuley EA, Westfield LA, Lester-Mancuso TL, Le Beau MM, Sorace JM, Sadler JE: Human von Willebrand factor gene and pseudogene: Structural analysis and differentiation by polymerase chain reaction. Biochemistry 30:253, 1991
24. Dubridge RB, Tang P, Hsia HC, Leong PM, Miller JH, Calos MP: Analysis of mutation in human cells by using an Epstein-Barr virus shuttle system. Mol Cell Biol 7:379, 1987
25. Montgomery RR, Kunicki TJ, Glode LM: Use of monoclonal antibody to increase the sensitivity and specificity of precipitating immunoassays and cell surface binding immunoassays. Methods Enzymol 121:702, 1986
26. Kawai Y, Montgomery RR: Endothelial cell processing of von Willebrand proteins. Ann N Y Acad Sci 509:60, 1987
27. Raines G, Aumann H, Sykes S, Street A: Multimeric analysis of von Willebrand factor by molecular sieving electrophoresis in sodium dodecyl sulphate agarose gel. Thromb Res 60:201, 1990
28. Scott JP, Montgomery RR: The rapid differentiation of type IIb von Willebrand's disease from platelet-type (pseudo-) von Willebrand's disease by the "neutral" monoclonal antibody binding assay. Am J Clin Pathol 96:723, 1991
29. Andrews RK, Booth WJ, Gorman JJ, Castaldi PA, Berndt MC: Purification of botrocetin from Bothrops jararaca venom. Analysis of the botrocetin-mediated interaction between von Willebrand factor and the human platelet membrane glycoprotein Ib-IX complex. Biochemistry 28:8317, 1989
30. Gill JC, Endres-Brooks J, Bauer PJ, Marks WJ Jr, Montgomery RR: The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 69:1691, 1987
31. Sadler JE, Ginsburg D: A database of polymorphisms in the von Willebrand factor gene and pseudogene. For the Consortium on von Willebrand Factor Mutations and Polymorphisms and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 69:185, 1993
32. Brinkhous KM, Read MS, Fricke WA, Wagner RH: Botrocetin (venom coagglutinin): Reaction with a broad spectrum of multimeric forms of factor VIII macromolecular complex. Proc Natl Acad Sci USA 80:1463, 1983
33. Mohri H, Yoshioka A, Zimmerman TS, Ruggeri ZM: Isolation of the von Willebrand factor domain interacting with platelet glycoprotein Ib, heparin, and collagen and characterization of its three distinct functional sites. J Biol Chem 264:17361, 1989
34. Andrews RK, Bendall LJ, Booth WJ, Berndt MC: Inhibition of binding of von Willebrand factor to the platelet glycoprotein Ib-IX complex, heparin and sulfatides by polyanionic compounds. The mechanism of modulation of the the adhesive function of von Willebrand factor. Platelets 6:252, 1995
35. Mohri H, Fujimura Y, Shima M, Yoshioka A, Houghten RA, Ruggeri ZM, Zimmerman TS: Structure of the von Willebrand factor domain interacting with glycoprotein Ib. J Biol Chem 263:17901, 1988
36. Berndt MC, Ward CM, Booth WJ, Castaldi PA, Mazurov AV, Andrews RK: Identification of aspartic acid 514 through glutamic acid 542 as a glycoprotein Ib-IX complex receptor recognition sequence in von Willebrand factor. Mechanism of modulation of von Willebrand factor by ristocetin and botrocetin. Biochemistry 31:11144, 1992
37. Sugimoto M, Mohri H, McClintock RA, Ruggeri ZM: Identification of discontinuous von Willebrand factor sequences involved in complex formation with botrocetin. A model for the regulation of von Willebrand factor binding to platelet glycoprotein Ib. J Biol Chem 266:18172, 1991
38. Matsushita T, Sadler JE: Identification of amino acid residues essential for von Willebrand factor binding to platelet glycoprotein Ib. Charged-to-alanine scanning mutagenesis of the A1 domain of human von Willebrand factor. J Biol Chem 270:13406, 1995
39. Fretto LJ, Fowler WE, McCaslin DR, Erickson HP, McKee PA: Substructure of human von Willebrand factor. Proteolysis by V8 and characterization of two functional domains. J Biol Chem 261:15679, 1986
40. Sixma JJ, Schiphorst ME, Verweij CL, Pannekoek H: Effect of deletion of the A1 domain of von Willebrand factor on its binding to heparin, collagen and platelets in the presence of ristocetin. Eur J Biochem 196:369, 1991
41. Sobel M, Soler DF, Kermode JC, Harris RB: Localization and characterization of a heparin binding domain peptide of human von Willebrand factor. J Biol Chem 267:8857, 1992
42. Girma JP, Takahashi Y, Yoshioka A, Diaz J, Meyer D: Ristocetin and botrocetin involve two distinct domains of von Willebrand factor for binding to platelet membrane glycoprotein Ib. Thromb Haemost 64:326, 1990
43. Margalit H, Fischer N, Ben-Sasson SA: Comparative analysis of structurally defined heparin binding sequences reveals a distinct spatial distribution of basic residues. J Biol Chem 268:19228, 1993
44. Sugimoto M, Dent J, McClintock R, Ware J, Ruggeri ZM: Analysis of structure-function relationships in the platelet membrane glycoprotein Ib-binding domain of von Willebrand's factor by expression of deletion mutants. J Biol Chem 268:12185, 1993
45. Hilbert L, Gaucher C, Mazurier C: Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. Blood 86:1010, 1995
46. Castaman G, Eikenboom JC, Rodeghiero F, Briet E, Reitsma PH: A novel candidate mutation (Arg611->His) in type I platelet discordant' von Willebrand's disease with desmopressin-induced thrombocytopenia. Br J Haematol 89:656, 1995