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Thromb Haemost 1998; 79(04): 709-717
DOI: 10.1055/s-0037-1615050
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Characterization of the Genetic Defects in Recessive Type 1 and Type 3 von Willebrand Disease Patients of Italian Origin

Jeroen C. J. Eikenboom
1   From the Department of Hematology, Hemostasis and Thrombosis Research Center, Leiden University Medical Center, Leiden, The Netherlands
,
Giancarlo Castaman
1   Department of Hematology, Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy
,
Hans L. Vos
1   From the Department of Hematology, Hemostasis and Thrombosis Research Center, Leiden University Medical Center, Leiden, The Netherlands
,
Rogier M. Bertina
1   From the Department of Hematology, Hemostasis and Thrombosis Research Center, Leiden University Medical Center, Leiden, The Netherlands
,
Francesco Rodeghiero
1   Department of Hematology, Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy
› Author Affiliations
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Publication History

Received 29 August 1997

Accepted after revision 21 November 1997

Publication Date:
07 December 2017 (online)

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Summary

The genetic defects causing recessive type 1 and type 3 von Wille-brand disease (VWD) in eight families from the northern part of Italy have been investigated. Mutations were identified in 14 of the 16 disease-associated von Willebrand factor (VWF) genes. Only one mutation, a stop codon in exon 45, was previously reported. Several new mutations were identified: one cytosine insertion in exon 42, one guanine deletion in exon 28, one probably complete VWF gene deletion, one substitution in the 3’ splice site of intron 13, one possible gene conversion, and three candidate missense mutations. One missense mutation, the substitution of a cysteine in exon 42, was identified in all type 3 VWD patients that were previously characterized as a subgroup with significant increase of factor VIII procoagulant activity after desmopressin infusion. This paper demonstrates again that the molecular defects of quantitative VWD are diverse and located throughout the entire VWF gene.

 

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