Download PDF
Thromb Haemost 1997; 78(01): 451-456
DOI: 10.1055/s-0038-1657568
Pathophysiology of von Willebrand factor
Schattauer GmbH Stuttgart

Gene Defects in 150 Unrelated French Cases with Type 2 von Willebrand Disease: from the Patient to the Gene

D Meyer
1   INSERM U.143, Hôpital Bicêtre, Le Kremlin-Bicêtre, France
,
E Fressinaud
1   INSERM U.143, Hôpital Bicêtre, Le Kremlin-Bicêtre, France
,
C Gaucher
2   LFB Lille, France
,
J-M Lavergne
1   INSERM U.143, Hôpital Bicêtre, Le Kremlin-Bicêtre, France
,
L Hilbert
2   LFB Lille, France
,
A-S Ribba
1   INSERM U.143, Hôpital Bicêtre, Le Kremlin-Bicêtre, France
,
S Jorieux
2   LFB Lille, France
,
C Mazurier
2   LFB Lille, France
,
INSERM Network on Molecular Abnormalities in von Willebrand Disease › Author Affiliations
Further Information

Publication History

Publication Date:
12 July 2018 (online)

Also available at
  PDF Download  Permissions and Reprints
 

  • References

  • 1 Ruggeri ZM, Ware J. The structure and function of von Willebrand factor. Thromb Haemost 1992; 67: 594-599
    Thieme ConnectPubMedSearch in Google Scholar
  • 2 Meyer D, Girma JP. von Willebrand factor - structure and function. Thromb Haemost 1993; 70: 99-104
    Thieme ConnectPubMedSearch in Google Scholar
  • 3 Ginsburg D, Sadler JE. von Willebrand disease - a database of point mutations, insertions, and deletions. Thromb Haemost 1993; 69: 177-184
    Thieme ConnectPubMedSearch in Google Scholar
  • 4 Mazurier C, Meyer D. Molecular basis of von Willebrand disease. In : Baillière’s Clinical Haematology. Lee CA. (ed). Baillière Tindall, London: 1996. pp 229-241
    Search in Google Scholar
  • 5 Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost 1994; 71: 520-525
    Thieme ConnectPubMedSearch in Google Scholar
  • 6 Mazurier C, Meyer D. Factor VIII binding assay of von Willebrand factor and the diagnosis of type 2N von Willebrand disease - Results of an international survey. Thromb Haemost 1996; 76: 270-274
    PubMedSearch in Google Scholar
  • 7 Gu J, Jorieux S, Lavergne JM, Ruan C, Mazurier C, Meyer D. A patient with type 2N von Willebrand disease is heterozygous for a new mutation : Gly22Glu. Demonstration of a defective expression of the second allele by the use of monoclonal antibodies. Blood 1997 (in press)
    PubMedSearch in Google Scholar
  • 8 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 Argl9 and His54 in mature von Willebrand factor. Blood 1996; 87: 1013-1021
    PubMedSearch in Google Scholar
  • 9 Miyata S, Goto S, Federici AB, Ware J, Ruggeri ZM. Conformational changes in the A1 domain of von Willebrand factor modulating the interaction with platelet glycoprotein Iba. J Biol Chem 1996; 271: 9041-9053
    PubMedSearch in Google Scholar
  • 10 Gaucher C, De RomeufC, Rauis-Morret M, Corazza F, Fondu P, Mazurier C. Diagnosis of subtype 2B von Willebrand disease in a patient with 2A phenotype of plasma von Willebrand factor. Thromb Haemost 1995; 73: 610-616
    Thieme ConnectPubMedSearch in Google Scholar
  • 11 Ruggeri ZM, Zimmerman TS. von Willebrand Factor and von Willebrand disease. Blood 1987; 70: 895-904
    PubMedSearch in Google Scholar
  • 12 Casonato A, Gemmati D, Lunghi B, Bizzano N, Girolami A, Verzola I, Bernardi F. Increased susceptibility to proteases in type 2A von Willebrand disease associated with two novel mutations (Val867Glu, Pro864His). Thromb Haemost 1995; 73: 1171 (Abstr)
    PubMedSearch in Google Scholar
  • 13 Hagiwara T, Inaba H, Yoshida S, Nagaizumi K, Arai M, Hanabusa H, Fukutake K. A novel mutation Glyl671‘Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease. Thromb Haemost 1996; 76: 253-257
    Thieme ConnectPubMedSearch in Google Scholar
  • 14 Lavergne JM, De PailletteL, Bahnak BR, Ribba AS, Fressinaud E, Pietu G, Meyer D. Defects in type IIA von Willebrand disease : a cysteine 509 to arginine substitution in the mature von Willebrand Factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX. Br J Haemat 1992; 82: 66-72
    CrossrefPubMedSearch in Google Scholar
  • 15 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 1994; 83: 833-841
    PubMedSearch in Google Scholar
  • 16 Holmberg L, Nilsson IM, Schneppenheim R. A new mutation in the vWF propeptide in recessive type 2A (IIC) von Willebrand disease. Haemophilia 1996; 2 (Suppl. 01) 86 (Abstr)
    PubMedSearch in Google Scholar
  • 17 Gaucher C, Hilbert L, Dieval J, Parquet A, Mazurier C. The transient expression of two phenotype IIC candidate mutations confirms the importance of vWF propeptide in the multimerization process. Thromb Haemost 1995; 73: 1168 (Abstr)
    PubMedSearch in Google Scholar
  • 18 Gaucher C, Mazurier C. Phenotype IIC von Willebrand disease: the expression of three mutant recombinant von Willebrand factors (vWF) confirms the importance of the D2 domain of vWF propeptide in the multimer assembly process. Br J Haematol 1996; 93: 15 (Abstr)
    CrossrefPubMedSearch in Google Scholar
  • 19 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: 3581-3586
    CrossrefPubMedSearch in Google Scholar
  • 20 Mancuso DJ, Kroner PA, Christopherson PA, Vokac EA, Gill JC, Montgomery RR. Type 2M:Milwaukee-l 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 1996; 88: 2559-2568
    PubMedSearch in Google Scholar
  • 21 Jorieux S, Gaucher C, Mazurier C. A novel mutation in the D3 domain of von Willebrand factor abolishes the factor VIII binding and affects the multimerization. Haemophilia 1996; 2 (Suppl. 01) 86 (Abstr.)
    PubMedSearch in Google Scholar
  • 22 Matsushita T, Sadler JE. Identification of amino acid residues essential for von Willebrand factor binding to platelet glycoprotein lb - Charged-to-alanine scanning mutagenesis of the Al domain of human von Willebrand factor. J Biol Chem 1995; 270: 13406-13414
    CrossrefPubMedSearch in Google Scholar
  • 23 Inbal A, Kornbrot N, Harrison P, Randi AM, Sadler JE. Effect of type IIB von Willebrand disease mutation Arg(545)Cys on platelet glycoprotein lb binding studies with recombinant von Willebrand factor. Thromb Haemost 1993; 70: 1058-1062
    Thieme ConnectPubMedSearch in Google Scholar
  • 24 Siguret V, Ribba AS, Christophe O, Cherel G, Obert B, Rouault C, Nishikubo T, Meyer D, Girma JP, Pietu G. Characterization of recombinant von Willebrand factors mutated on cysteine 509 or 695. Thromb Haemost 1996; 76: 453-459
    Thieme ConnectPubMedSearch in Google Scholar
  • 25 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 1992; 89: 9846-9849
    CrossrefPubMedSearch in Google Scholar
  • 26 Hilbert L, Gaucher C, Mazurier C. Identification of two mutations (Arg611Cys and Arg611His) in the Al loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. Blood 1995; 86: 1010-1018
    PubMedSearch in Google Scholar
  • 27 Gaucher C, Hilbert L, Meriane F, Mazurier C, Pernod G. Type von Willebrand disease resulting from an insertion or deletion in the 509-965 disulphide loop of von Willebrand factor. Thromb Haemost 1995; 73: 1168 (Abstr)
    PubMedSearch in Google Scholar
  • 28 Hilbert L, Gaucher C, de RomeufC, Parquet A, Abgrall JF, Trzeciak C, Mazurier C. Identification of “new” type 2B von Willebrand disease mutations : R543Q, R545P and R578L. Br J Haematol 1996; 93: 310 (Abstr)
    PubMedSearch in Google Scholar
  • 29 Kroner PA, Frey AB. Analysis of the structure and function of the von Willebrand factor A1 domain using targeted deletions and alanine-scanning mutagenesis. Biochemistry 1996; 35: 13460-13468
    CrossrefPubMedSearch in Google Scholar
  • 30 Marti T, Rösselet SJ, Titani K, Walsh KA. Identification of disulfide-bridged substructures within human von Willebrand factor. Biochemistry 1987; 26: 8099-8109
    CrossrefPubMedSearch in Google Scholar