Baronciani, L., Goodeve, A. and Peyvandi, F. (2017) Molecular diagnosis of von Willebrand disease. Haemophilia, 23 (2). pp. 188-197. ISSN 1351-8216
Abstract
The role of molecular characterization in the diagnosis of von Willebrand disease (VWD) is not essential if the patients have been extensively investigated using phenotypic analysis. On the other hand, if some of these phenotype assays are not available, the identification of the mutation causing the disease could be crucial for an accurate diagnosis. Nevertheless, there are several reasons for performing molecular analysis in patients phenotypically well characterized, e.g. to identify the mutation causing VWD can be useful for patients and their family members when prenatal diagnosis is required (type 3 or severe type 2). In this manuscript, we report the techniques used for the molecular characterization of suspected VWD patients. We describe the use of online von Willebrand factor database and online single nucleotide variation databases, the former to verify whether a candidate mutation has been previously identified in other VWD patients and the latter to ascertain whether a putative mutation has been reported earlier in healthy individuals. We listed the available in silico analysis tools, to determine the predicted pathogenicity of a sequence variant and to establish its possible negative effect on the normal splicing process. We also report the strategy that can be used to identify VWD type 2 patients' mutations in subjects who have been fully characterized using the phenotype assays.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2017 John Wiley & Sons Ltd. This is an author produced version of a paper subsequently published in Haemophilia. Uploaded in accordance with the publisher's self-archiving policy. |
Keywords: | DNA sequence analysis; Multiplex Ligation-dependent Probe Amplification; Next Generation Sequence analysis; molecular characterization; von Willebrand disease; von Willebrand factor |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Infection, Immunity and Cardiovascular Disease The University of Sheffield > Sheffield Teaching Hospitals |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 15 Mar 2017 09:49 |
Last Modified: | 14 Jul 2023 11:52 |
Status: | Published |
Publisher: | Wiley |
Refereed: | Yes |
Identification Number: | 10.1111/hae.13175 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:113478 |