Publication
Title
A novel type 2A von Willebrand factor mutation (V1499E) associated with variable clinical expression
Author
Abstract
We have identified a previously unreported mutation, V1499E, with a high penetrance in it family with type 2A von Willebrand disease. Affected family members were difficult to identify owing to variable von Willebrand factor (VWF) levels, variable expression of VWF multimers, and clinical symptoms. Recombinant V1499E-VWF was more readily cleaved by ADAMTS13 than the wild-type protein, suggesting that V1499E is the causative Mutation. Surprisingly, this seemingly novel unique mutation was also found in other family members in 2 other hospitals displaying the same variable laboratory and clinical symptoms. The fact that this V1499E mutation was detected independently in 3 hospitals is strongly in favor of 1 central database, especially considering the variable laboratory and clinical picture.
Language
English
Source (journal)
Journal of pediatric hematology, oncology. - New York
Publication
New York : 2009
ISSN
1077-4114
Volume/pages
31:4(2009), p. 277-280
ISI
000265156100037
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 24.02.2012
Last edited 08.06.2017
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