NDLI: Molecular Characterization of a Multiethnic Group of 21 Patients with Type 3 von Willebrand Disease

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Molecular Characterization of a Multiethnic Group of 21 Patients with Type 3 von Willebrand Disease

Content Provider	Scilit
Author	Cozzi, Giovanna Canciani, Maria Teresa Peyvandi, Flora Srivastava, Alok Federici, Augusto Bramante Mannucci, Pier Mannuccio Baronciani, Luciano
Copyright Year	2000
Description	Summary: Type 3 von Willebrand disease is a rare autosomal disorder characterized by unmeasurable levels of von Willebrand factor and severe hemorrhagic symptoms. We studied a multiethnic group of 37 patients, from Italy (n = 14), Iran (n = 10) and India (n = 13) to identify the molecular defects and to evaluate genetic heterogeneity among these populations. Twenty-one patients (6 Italians, 9 Iranians and 6 Indians) were fully characterized at the molecular level. Twenty-four different gene alterations were identified, 20 of which have not been described previously. The majority of the mutations caused null alleles, 11 being nonsense mutations (Q218, W222, R365, R373, E644, Q706, S1338, Q1346, Y1542, R1659, E2129), 4 small deletions (437delG, 2680delC, 6431delT, del 8491-8499), 3 possible splice site mutations [IVS9(-1)g→a, IVS29(+10)c→t, IVS40(-1)g → c], 3 candidate missense mutations (C275S, C2174G, C2804Y), 2 small insertions (7375insC, 7921insC) and 1 large gene deletion. The latter mutation was associated with the development of alloantibodies to VWF, but this complication was also found in a patient homozygous for a nonsense mutation (Q1346). Due to the ethnic origin of the patients most of them were the offspring of consanguineous marriages and so were homozygous for the mutations found (18/21). Our results indicate that molecular defects responsible for type 3 VWD are scattered throughout the entire VWF gene (from exon 3 to 52), and that there is no prevalent and common gene defect in the three populations studied by us.
Related Links	http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0037-1614063.pdf
Ending Page	540
Page Count	5
Starting Page	536
ISSN	2567689X
DOI	10.1055/s-0037-1614063
Journal	Thrombosis and Haemostasis
Issue Number	10
Volume Number	84
Language	English
Publisher	Georg Thieme Verlag KG
Publisher Date	2000-01-01
Access Restriction	Open
Subject Keyword	Journal: Thrombosis and Haemostasis Infectious Diseases Von Willebrand Factor Type 3 Von Willebrand Disease Gene Analysis
Content Type	Text
Resource Type	Article
Subject	Hematology

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