+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease



Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease



Haemophilia 13(5): 645-648



A 23-year-old Chinese woman with severe von Willebrand factor (VWF) deficiency and her parents were investigated by PCR/direct sequencing of the VWF gene. The patient was found to be compound heterozygous for two novel null mutations. The first was a microinsertion in exon 8 (1203insG) that introduced a frameshift at codon 298 leading to premature translational termination at codon 302. The second was a C to A transversion in exon 28 which resulted in the replacement of tyrosine 562 by a stop codon (Y1456X). The failure to amplify VWF cDNA from the patient by semi-nested PCR is consistent with the induction of nonsense-mediated mRNA decay.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 052269091

Download citation: RISBibTeXText

PMID: 17880457

DOI: 10.1111/j.1365-2516.2007.01514.x


Related references

Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio. Acta Haematologica 121(2-3): 128-138, 2009

Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide. Thrombosis and Haemostasis 96(3): 290-294, 2006

Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families. Acta Haematologica 121(2-3): 106-110, 2009

Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor. Blood 95(6): 2000-2007, 2000

A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene. Thrombosis Research 105(2): 135-138, 2002

Identification of Mutations in the Canine von Willebrand Factor Gene Associated with Type Iii von Willebrand Disease. Thrombosis and Haemostasis 80(8): 332-337, 1998

Identification of mutations in the canine von Willebrand factor gene associated with type III von Willebrand disease. Thrombosis and Haemostasis 80(2): 332-337, 1998

Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene. British Journal of Haematology 127(2): 184-189, 2004

Variable phenotypic penetrance of von Willebrand factor gene Y1584C heterozygosity in Type 1 von Willebrand disease families and its association with enhanced in vitro susceptibility to ADAMTS 13 mediated proteolysis. Blood 102(11): 311a, 2003

Three distinct candidate point mutations of the von Willebrand factor gene in four patients with type IIA von Willebrand disease. Thrombosis and Haemostasis 67(6): 612-617, 1992

Dominant von Willebrand disease type 2A groups I and II due to missense mutations in the A2 domain of the von Willebrand factor gene: diagnosis and management. Acta Haematologica 121(2-3): 154-166, 2009

Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. American Journal of Human Genetics 51(4): 850-858, 1992

Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations. Thrombosis and Haemostasis 99(5): 916-924, 2008

Splice Site Mutations of the Von Willebrand Factor Gene Cause Inframe Exon Skipping as a Novel Molecular Mechanism in Von Willebrand Disease Type 2A. Blood 100(11): Abstract No 478, 2002

A de novo mutation in exon 28 of the von Willebrand factor gene in a patient with type Iia von Willebrand's disease coincides with an Mbo l polymorphism in the von Willebrand factor pseudogene. Human Molecular Genetics 2(12): 2159-2161, 1993