Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease

Blood

Volumn 102, Issue 2, 2003, Pages 549-557

  O'Brien, Lee A ^b   James, Paula D ^b   Othman, Maha ^b   Berber, Ergul ^b   Cameron, Cherie ^b   Notley, Colleen R P ^b   Hegadorn, Carol A ^b   Sutherland, Jeffrey J ^b   Hough, Christine ^b   Rivard, Georges E ^b   O'Shaunessey, Denise ^b   Lillicrap, David ^a  

^a QUEEN S UNIVERSITY   (Canada)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 8; POLYMER; RNA; SOLVENT; THIOL GROUP; TYROSYLCYSTEINE; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR RISTOCETIN COFACTOR;

ALLELE; ARTICLE; BLOOD CLOTTING; DISEASE ASSOCIATION; EXON; EXPOSURE; FAMILIAL DISEASE; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MOLECULAR DYNAMICS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; QUALITATIVE ANALYSIS; REACTION ANALYSIS; RNA SPLICING; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SIMULATION; STRUCTURE ANALYSIS; SUBSTITUTION REACTION; UNITED KINGDOM; VON WILLEBRAND DISEASE;

EID: 0038156292     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-12-3693     Document Type: Article

References (46)

1. Kekomaki R, Rasi V, Ebeling F, et al. von Willebrand disease in Finland. Haemophilia. 1999;5:72-74.
2. Scheibel E. von Willebrand disease in Denmark: demography and treatment. Haemophilia. 1999;5:71.
3. Werner EJ, Broxson EH, Tucker EL, Giroux DS, Shults J, Abshire TC, Prevalence of von Willebrand disease in children: a multiethnic study. J Pediatr. 1993;123:893-898.
4. Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood. 1987;69:454-459.
5. Miller CH, Lenzi R, Breen C. Prevalence of von Willebrand's disease among U.S. adults [abstract]. Blood. 1987;70:377.
6. Lynch DC, Zimmerman TS, Collins CJ, et al. Molecular cloning of cDNA for human von Willebrand factor: authentication by a new method. Cell. 1985;41:49-56.
7. Sadler JE, Shelton-inloes BB, Sorace JM, Harlan JM, Titani K, Davie EW. Cloning and characterization of two cDNAs coding for human von Willebrand factor. Proc Natl Acad Sci U S A. 1985;82:6394-6398.
8. Ginsburg D, Handin RI, Bonthron DT, et al. Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization. Science. 1985;228:1401-1406.
9. Verweij CL, Diergaarde PJ, Hart M, Pannekoek H. Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit. EMBO J. 1986;5:1839-1847.
10. Schneppenheim R, Krey S, Bergmann F, et al. Genetic heterogeneity of severe von Willebrand disease type III in the German population. Hum Genet. 1994;94:640-652.
11. Bahnak BR, Lavergne JM, Rothschild C, Meyer D. A stop codon in a patient with severe type III von Willebrand disease. Blood. 1991;78:1148-1149.
12. Zhang ZP, Falk G, Blomback M, Egberg N, Anvret M. A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients. Hum Mol Genet. 1992;1:767-768.
13. Zhang ZP, Lindstedt M, Falk G, Blomback M, Egberg N, Anvret M. Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. Am J Hum Genet. 1992;51:850-858.
14. Eikenboom JC, Ploos van Amstel HK, Reitsma PH, Briet E. Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA. Thromb Haemost. 1992;68:448-454.
15. Surdhar GK, Enayat MS, Lawson S, Williams MD, Hill FG. Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development. Blood. 2001;98:248-250.
16. Tout H, Obert B, Houllier A, et al. Mapping and functional studies of two alloantibodies developed in patients with type 3 von Willebrand disease. Thromb Haemost. 2000;83:274-281.
17. Mohlke KL, Nichols WC, Westrick RJ, et al. A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11. Proc Natl Acad Sci U S A. 1996;93:15352-15357.
18. Mohlke KL, Purkayastha AA, Westrick RJ, et al. Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase. Cell. 1999;96:111-120.
19. Kroner PA, Foster PA, Fahs SA, Montgomery RR. The defective interaction between von Willebrand factor and factor VIII in a patient with type 1 von Willebrand disease is caused by substitution of Arg19 and His54 in mature von Willebrand factor. Blood. 1996;87:1013-1021.
20. NCCLS. Collection, transport and preparation of blood specimens for coagulation testing and performance of coagulation assays. In: National Committee for Clinical Laboratory (NCCLS) Standards. Vol 11, no 23. Document H21-A2;1991.
21. Hardisty RM, MacPherson JC. Aone-stage factor VIII assay and its use on venous and capillary plasma. Thromb Diath Haemorrh. 1962;7:215-219.
22. Buddle U, Schneppenheim R, Plendl H, Dent J, Ruggeri ZM, Zimmerman TS. Luminographic detection of von Willebrand factor multimers in agarose gels and on nitrocellulose membranes. Thromb Haemost. 1990;63:312-315.
23. Lahiri DK, Nurnberger JI Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res. 1991;19:5444.
24. Mancuso DJ, Tuley EA, Westfield LA, et al. Structure of the gene for human von Willebrand factor. J Biol Chem. 1989;264:19514-19527.
25. Mancuso DJ, Tuley EA, Westfield LA, et al. Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry. 1991;30:253-269.
26. Peake IR, Bowen D, Bignell P, et al. Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number of tandem repeat region of the von Willebrand factor gene. Blood. 1990;76:555-561.
27. Graham FL, van der Eb AJ. A new technique for the assay of infectivity of human adenovirus 5 DNA. Virology. 1973;52:456-467.
28. Kale L, Skeel R, Bhandarkar M, et al. NAMD2: greater scalability for parallel molecular dynamics. J Comput Phys. 1999;151:283-312.
29. Orstavik KH, Magnus P, Reisner H, Berg K, Graham JB, Nance W. Factor VIII and factor IX in a twin population: evidence for a major effect of ABO locus on factor VIII level. Am J Hum Genet. 1985;37:89-101.
30. Keller EB, Noon WA. Intron splicing: a conserved internal signal in introns of animal pre-mRNAs. Proc Natl Acad Sci U S A. 1984;81:7417-7420.
31. Dean JA, Blanchette VS, Carcao MD, et al. von Willebrand disease in a pediatric-based population: comparison of type 1 diagnostic criteria and use of the PFA-100 and a von Willebrand factor/ collagen-binding assay. Thromb Haemost. 2000;84:401-409.
32. Scientific and Standardization Committee of the International Society for Thrombosis and Haemostasis (SSC/ISTH) Subcommittee on von Willebrand Factor. Annual Report of the SSC/ISTH Subcommittee on VWF. Chapel Hill, NC; 1996.
33. Sadler JE. Von Willebrand disease type 1: a diagnosis in search of a disease. Blood. 2003;101:2089-2093.
34. Eikenboom JC, Reitsma PH, Peerlinck KM, Briet E. Recessive inheritance of von Willebrand's disease type I. Lancet. 1993;341:982-986.
35. Eikenboom JC, Castaman G, Vos HL, Bertina RM, Rodeghiero F. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb Haemost. 1998;79:709-717.
36. Castaman G, Novella E, Castiglia E, Eikenboom JC, Rodeghiero F. A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene. Thromb Res. 2002;105:135-138.
37. Casana P, Martinez F, Haya S, Espinos C, Aznar JA. Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease. Ann Hematol. 2001;80:381-383.
38. Bodo I, Katsumi A, Tuley EA, Eikenboom JC, Dong Z, Sadler JE. Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins. Blood. 2001;98:2973-2979.
39. Eikenboom JC, Matsushita T, Reitsma PH, et al. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. Blood. 1996;88:2433-2441.
40. Castaman G, Eikenboom JC, Missiaglia E, Rodeghiero F. Autosomal dominant type 1 von Willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect. Br J Haematol. 2000;108:876-879.
41. Jenkins PV, Pasi KJ, Perkins SJ. Molecular modeling of ligand and mutation sites of the type A domains of human von Willebrand factor and their relevance to von Willebrand's disease. Blood. 1998;91:2032-2044.
42. Cooney KA, Nichols WC, Bruck ME, et al. The molecular defect in type IIB von Willebrand disease: identification of four potential missense mutations within the putative Gplb binding domain. J Clin Invest. 1991;87:1227-1233.
43. Ware J, Dent JA, Azuma H, et al. Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor. Proc Natl Acad Sci U S A. 1991;88:2946-2950.
44. Meyer D, Fressinaud E, Gaucher C, et al. Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease. Thromb Haemost. 1997;78:451-456.
45. Gaucher C, Hanss M, Dechavanne M, Mazurier C. Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease. Br J Haematol. 1993;83:94-99.
46. Castaman G, Eikenboom JC, Bertina RM, Rodeghiero F. Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. Thromb Haemost. 1999;82:1065-1070.