|
|
 Previous Article | Table of Contents | Next Article 
Characterization of von Willebrand factor gene defects in two unrelated
patients with type IIC von Willebrand disease
C Gaucher, J Dieval and C Mazurier
Laboratoire de Recherche sur l'Hemostase, Centre Regional de Transfusion
Sanguine, Lille, France.
Genetic studies were performed in two unrelated patients with the IIC
phenotype of von Willebrand disease (vWD) characterized by the increased
concentration of the protomeric form of von Willebrand factor (vWF). In
patient B, the sequencing of both exons 15 and 16 of the vWF gene showed
two sequence alterations: a 3-bp insertion in exon 15 resulting in the
insertion of a Glycine at position 625 (625insGly) and a 2-bp deletion in
exon 16 leading to a premature translational stop at codon 711 (711 ter),
at the heterozygote state. Patient A was found homozygous for a single
point mutation also localized in exon 15 and responsible for the
substitution Cys623Trp. These candidate mutations were not found in a panel
of 96 normal chromosomes, suggesting a causal relationship with IIC vWD
phenotypic expression. The composite heterozygote or homozygote state of
both patients supports the recessive mode of inheritance already described
for this phenotype. Furthermore, the localization of these gene defects in
the D2 domain of vWF propeptide, known to play an important role in vWF
multimerization, provides another argument in favor of their causative
effect regarding the peculiar multimeric pattern of vWF in these patients.
Volume 84,
Issue 4,
pp. 1024-1030,
08/15/1994
Copyright © 1994 by The American Society of Hematology
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
J. J. Michiels, Z. Berneman, A. Gadisseur, M. van der Planken, W. Schroyens, A. van de Velde, and H. van Vliet
Classification and Characterization of Hereditary Types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (Unclassifiable) von Willebrand Disease
Clinical and Applied Thrombosis/Hemostasis,
October 1, 2006;
12(4):
397 - 420.
[Abstract]
[PDF]
|
|
|
|
|
|
|
J. B. Rosenberg, S. L. Haberichter, M. A. Jozwiak, E. A. Vokac, P. A. Kroner, S. A. Fahs, Y. Kawai, and R. R. Montgomery
The role of the D1 domain of the von Willebrand factor propeptide in multimerization of VWF
Blood,
August 13, 2002;
100(5):
1699 - 1706.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
R. Schneppenheim, U. Budde, T. Obser, J. Brassard, K. Mainusch, Z. M. Ruggeri, S. Schneppenheim, R. Schwaab, and J. Oldenburg
Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease
Blood,
April 1, 2001;
97(7):
2059 - 2066.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A.-S. Ribba, L. Hilbert, J.-M. Lavergne, E. Fressinaud, C. Boyer-Neumann, C. Ternisien, I. Juhan-Vague, J. Goudemand, J.-P. Girma, C. Mazurier, et al.
The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor
Blood,
February 15, 2001;
97(4):
952 - 959.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
S. Allen, A. M. Abuzenadah, J. Hinks, J. L. Blagg, T. Gursel, J. Ingerslev, A. C. Goodeve, I. R. Peake, and M. E. Daly
A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion
Blood,
July 15, 2000;
96(2):
560 - 568.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
