Abstract:
:Sequencing of the gene encoding for von Willebrand factor (VWF) has brought new insight into the physiology of VWF as well as its pathophysiology in the context of von Willebrand disease (VWD). Molecular testing in VWD patients has shown high variability in the overall genetic background of this condition. Almost 600 mutations and many disease-causing mechanisms have been described in the 35 years since the VWF gene was identified. Genetic testing in VWD patients is now available in many centers as a part of the VWD diagnostic algorithm. Molecular mechanisms leading to types 2 and 3 VWD are well characterized; thus, information from genetic analysis in these VWD types may be beneficial for their correct classification. However, the molecular basis of type 1 VWD is still not fully elucidated and most likely represents a multifactorial disorder reflecting a combined impact of environmental and genetic factors within and outside of VWF. Regarding sequencing methods, the previous gold-standard Sanger sequencing is gradually being replaced with next-generation sequencing methods that are more cost- and time-effective. Instead of gene-by-gene approaches, gene panels of genes for coagulation factors and related proteins have recently become a center of attention in patients with inherited bleeding disorders, especially because a high proportion of VWD patients, mainly those with low VWF plasma levels (type 1), appear to be free of mutations in VWF. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are accessible in a very limited number of laboratories. Results from these studies have presented several genes other than VWF or ABO possibly affecting VWF levels, and such findings will need further validation studies.
journal_name
Semin Thromb Hemostjournal_title
Seminars in thrombosis and hemostasisauthors
Zolkova J,Sokol J,Simurda T,Vadelova L,Snahnicanova Z,Loderer D,Dobrotova M,Ivankova J,Skornova I,Lasabova Z,Kubisz P,Stasko Jdoi
10.1055/s-0039-3402430subject
Has Abstractpub_date
2020-06-01 00:00:00pages
484-500issue
4eissn
0094-6176issn
1098-9064journal_volume
46pub_type
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journal_title:Seminars in thrombosis and hemostasis
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 临床试验,杂志文章,随机对照试验,评审
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pub_type: 指南,杂志文章,实务指引
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