Von Willebrand disease type 2M 'Vicenza' in Italian and German patients: Identification of the first candidate mutation (G3864A; R1205H) in 8 families

Thrombosis and Haemostasis

Volumn 83, Issue 1, 2000, Pages 136-140

  Schneppenheim, Reinhard ^a   Federici, Augusto B ^g   Budde, Ulrich ^b   Castaman, Giancarlo ^c   Drewke, Elke ^b   Krey, Sonja ^d   Mannucci, Pier M ^g   Riesen, Gabi ^d   Rodeghiero, Francesco ^c   Zieger, Barbara ^e   Zimmermann, Rainer ^f  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b Lab Assoc Keeser Arndt and Ptnrs   (Germany)

^c SAN BORTOLO HOSPITAL   (Italy)

^d UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^e UNIVERSITY OF FREIBURG   (Germany)

^f Rehabilitation Hospital   (Germany)

^g NONE

Author keywords

Von Willebrand disease type 2M Vicenza; Von Willebrand factor genetics

Indexed keywords

POLYMER;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; GERMANY; HAPLOTYPE; HETERODUPLEX ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; HUMAN TISSUE; INTRON; ITALY; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; VON WILLEBRAND DISEASE;

EID: 0033971892     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613769     Document Type: Article

References (23)

1. Mannucci PM, Lombardi R, Castaman G, Dent JA, Lattuada A, Rodeghiero F, Zimmerman TS. Von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willehrand factor multimers. Blood 1988; 71: 65-70.
2. Zieger B, Budde U, Jessat U, Zimmermann R, Simon M, Katzel R, Sutor AH. New families with von Willebrand disease type 2M (Vicenza). Thromb Res 1997; 87: 57-64.
3. Randi AM, Sacchi E, Castaman GC, Rodeghiero F, Mannucci PM. The genetic defect of type I von Willebrand disease "Vicenza" is linked to the von Willebrand factor gene. Thromb Haemost 1993; 69: 173-6.
4. Ivy AC, Shapiro PF, Melnick P. The bleeding tendency in jaundice. Surg Gynecol Obstet 1935; 60: 781.
5. Mielke CH Jr, Kaneshiro MM, Maher JA, Weiner JM, Rapaport SJ. The standardised normal bleeding time and its prolongation by aspirin. Blood 1969; 34: 204-15.
6. Hardisty RM, McPherson JC. A one-stage factor VIII (antihaemophilic globulin) assay and its use on venous and capillary plasma. Thrombos Diathes Haemorrh 1962; 7: 215-29.
7. Mazurier C, Parquet-Gernez A, Goudemand M. Enzyme-linked immunoabsorbent assay of factor VIII-related antigen. Interest in study of Von Willerbrand's disease. Pathol Biol Paris 1977; 25: 18-24.
8. Macfarlane DE, Stibbe J, Kirby EP, Zucker MB, Grant RA, McPherson J. A method for assaying von Willebrand factor (ristocetin cofactor). Thromb Diath Haemorrh 1975; 34: 306-8.
9. Ruggeri ZM, Zimmerman TS. The complex multimeric composition of factor VIII/von Willebrand factor. Blood 1981; 57: 1140-3.
10. Schneppenheim R, Plendl H, Budde U. Luminography - an alternative assay for detection of von Willebrand factor multimers. Thromb Haemost 1988; 60: 133-6.
11. 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 1989; 264: 19514-27.
12. 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 1991; 30: 253-69.
13. Sadler JE. Ginsburg D. A database of polymorphisms in the von Willebrard 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 1993; 69: 185-91.
14. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A laboratory manual, Cold Spring Harbor Lab. Press, 1989.
15. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239: 487-91.
16. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989; 86: 2766-70.
17. Budowle B, Chakraborty R, Giusti AM, Eisenberg AJ, Allen RC. Analysis of the VNTR locus DIS80 by the PCR followed by high resolution PAGE. Am J Hum Genet 1991; 48: 137-44.
18. Schneppenheim R, Brassard J, Krey S, Budde U, Kunicki TJ, Holmberg L, Ware J, Ruggeri ZM. Defective dimerization of von Willebrand factor subunits due to a Cys → Arg mutation in type IID von Willebrand disease. Proc Natl Acad Sci USA 1996; 93: 3581-6.
19. Lowe T, Sharefkin J, Yang SQ, Dieffenbach CW. A computer program for selection of oligonucleotide primers for polymerase chain reactions. Nucleic Acids Res 1990; 18: 1757-61.
20. Wagner DD, Olmsted JB, Marder VJ. Immunolocalization of von Willebrand protein in Weibel-Palade bodies of human endothelial cells. J Cell Biol 1982; 95: 355-60.
21. Sporn LA, Marder VJ, Wagner DD. Inducible secretion of large, biologically potent von Willebrand factor multimers. Cell 1986; 46: 185-90.
22. Leyte A, Voorberg J, Van Schijndel HB, Duim B, Pannekoek H, Van Mourik JA. The pro-polypeptide of von Willebrand factor is required for the formation of a functional factor VIII-binding site on mature von Willebrand factor. Biochem J 1991; 274: 257-61.
23. d'Alessio PA, Castaman G, Rodeghiero F, de-Boer HC, Federici AB, Mannucci PM, de-Groot PG, Sixma JJ, Zwaginga JJ. In vivo experiments indicate that relatively high platelet deposition in von Willebrand's disease "Vicenza" is caused by normal platelet-VWF levels rather than by high VWF-multimers in plasma. Thromb Res 1992; 65: 221-8.