R924Q substitution encoded within exon 21 of the von Willebrand Factor gene related to mild bleeding phenotype

Patricia Casais; Gonzalo A. Carballo; Adriana I. Woods; Ana C. Kempfer; Cristina C. Farías; Silvia H. Grosso; María A. Lazzari

doi:10.1160/TH06-03-0144

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2006; 96(02): 228-230
DOI: 10.1160/TH06-03-0144

Case Report

Schattauer GmbH

R924Q substitution encoded within exon 21 of the von Willebrand Factor gene related to mild bleeding phenotype

Patricia Casais^*

¹Departamento de Hemostasia y Trombosis, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, Argentina

,

Gonzalo A. Carballo^*

¹Departamento de Hemostasia y Trombosis, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, Argentina

,

Adriana I. Woods

²Consejo Nacional de Investigaciones Científicas y Tecnológicas (CONICET), Buenos Aires, Argentina

,

Ana C. Kempfer

²Consejo Nacional de Investigaciones Científicas y Tecnológicas (CONICET), Buenos Aires, Argentina

,

Cristina C. Farías

²Consejo Nacional de Investigaciones Científicas y Tecnológicas (CONICET), Buenos Aires, Argentina

,

Silvia H. Grosso

¹Departamento de Hemostasia y Trombosis, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, Argentina

,

María A. Lazzari

¹Departamento de Hemostasia y Trombosis, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, Argentina

²Consejo Nacional de Investigaciones Científicas y Tecnológicas (CONICET), Buenos Aires, Argentina

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Abstract

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References

References
1 Werner EJ, Broxson EH, Tucker EL. et al. Prevalence of von Willebrand disease in children: a multiethnic study. J Pediatr 1993; 123: 893-8.
2 Nichols WC, Ginsburg D. Reviews in molecular Medicine. Von Willebrand disease. Medicine 1997; 76: 1-19.
3 Nesbitt IM, Hampton KK, Preston FE. et al. A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations. Thromb Haemost 1999; 82: 1061-4.
4 von Willebrand disease mutation database, International Society on Thrombosis and Haemostasis. http://www.sheffield.ac.uk/vwf/
5 Hilbert L, D’ Oiron R, Fressinaud E. et al. INSERM Network on Molecular Abnormalities in von Willebrand Disease. First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene. J Thromb Haemost 2004; 02: 2271-3.
6 Schneppenheim R, Lenk H, Obser T. et al. Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization. Thromb Haemost 2004; 92: 36-41.
7 Jorieux S, Fressinaud E, Goudemand J. et al. Conformational changes in the D’ domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment. Blood 2000; 95: 3139-45.
8 Allen S, Abuzenadah AM, Blagg JL. et al. Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor. Blood 2000; 95: 2000-7.
9 Hilbert L, Jorieux S, Proulle V. et al. INSERM Network on Molecular Abnormalities in von Willebrand Disease. Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity. Br J Haematol 2003; 120: 627-32.
10 Taylor LD. The application of the biotin/avidin system to the von Willebrand factor antigen immunoassay. Thromb Haemost 1988; 59: 251-4.
11 Zacharsky LR, Rosenstein R. Standarization of the one stage assay for FVIII (antihemophilic factor). Am J Clin Pathol 1978; 70: 280-6.
12 Macfarlane DE, Stibbe J, Kirby EP. et al. A method for assaying von Willebrand factor (ristocetin cofactor). Thromb Diath Haemorrh 1975; 34: 306-8.
13 Casonato A, Pontara E, Zerbinati P. et al. The evaluation of factor VIII binding activity of von Willebrand factor by means of an ELISA method: significance and practical implications. Am J Clin Pathol 1998; 109: 347-52.
14 Farías C, Kempfer AC, Blanco A. et al. Visualization of the multimeric structure of von Willebrand factor by immunoenzymatic stain using avidin-peroxidase complex instead of avidin-biotin peroxidase complex. Thromb Res 1989; 53: 513-8.
15 Bowen DJ, Standen GR, Mazurier C. et al. Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F) – detection of a novel candidate type 2N mutation: C2810T (R854W). Thromb Haemost 1998; 80: 32-6.
16 Ganguly A, Rock MJ, Prockop DJ. Conformation- Sensitive Gel Electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments: evidences for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993; 90: 10325-9.
17 Goodeve A, Hashemi M, Castaman G. et al. Mutation Profile in Patients Diagnosed with Type 1 von Willebrand Disease in the European Study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD). J Thromb Haemost 2005; 03 S 1: OR281.
18 Hashemi M, Peake I, Goodeve A. et al. The Incidence and Penetrance of Common VWF Gene Mutations in a Cohort of Type 1 VWD Patients: Results from the EU Funded MCMDM-1VWD Project. J Thromb Haemost 2005; 03 S 1: P1469.
19 Casonato A, Sartorello F, Cattini MG. et al. An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant. Blood 2003; 101: 151-6.
20 Mazurier C, Gaucher C, Jorieux S. et al. Biological effect of desmopressin in eight patients with type 2N (‘Normandy’) von Willebrand disease. Collaborative Group. Br J Haematol 1994; 88: 849-54.
21 Federici AB, Mazurier C, Berntorp E. et al. Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study. Blood 2004; 103: 2032-8.
22 Lopez-Fernandez MF, Blanco-Lopez MJ, Castineira MP. et al. Further evidence for recessive inheritance of von Willebrand disease with abnormal binding of von Willebrand factor to factor VIII. Am J Hematol 1992; 40: 20-7.
23 Lethagen S, Castaman G, Federici A. et al. Responsiveness to Desmopressin: Influence of Genotype in Patients Diagnosed with Type 1 von Willebrand Disease in the European Study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD. J Thromb Haemost 2005; 03 S 1: H08.