Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients

American Journal of Hematology

Volumn 87, Issue 9, 2012, Pages 870-874

  Solimando, Maria ^a   Baronciani, Luciano ^a   La Marca, Silvia ^a   Cozzi, Giovanna ^a   Asselta, Rosanna ^a   Canciani, Maria Teresa ^a   Federici, Augusto B ^a   Peyvandi, Flora ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; GENE INSERTION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; IN VITRO STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NULL ALLELE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA ANALYSIS; SCHOOL CHILD; TYPE 3 VON WILLEBRAND DISEASE; VON WILLEBRAND DISEASE;

ADOLESCENT; ADULT; ANIMALS; CELL CULTURE TECHNIQUES; CERCOPITHECUS AETHIOPS; CHILD; COHORT STUDIES; COS CELLS; DNA, COMPLEMENTARY; FEMALE; HUMANS; ITALY; MALE; MUTATION; MUTATION, MISSENSE; PLASMIDS; RNA SPLICE SITES; RNA, MESSENGER; TRANSFECTION; VON WILLEBRAND DISEASE, TYPE 3; VON WILLEBRAND FACTOR; YOUNG ADULT;

EID: 84865397258     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.23265     Document Type: Article

References (31)

1. Ruggeri ZM, Zimmerman TS. von Willebrand factor and von Willebrand disease. Blood 1987; 70: 895-904.
2. Mannucci PM, Bloom AL, Larrieu MJ, et al. Atherosclerosis and von Willebrand factor. I. Prevalence of severe von Willebrand's disease in western Europe and Israel. Br J Haematol 1984; 57: 163-169.
3. Sadler JE, Mannucci PM, Berntorp E, et al. Impact, diagnosis and treatment of von Willebrand disease. Thromb Haemost 2000; 84: 160-174.
4. Baronciani L, Federici AB, Eikenboom JCJ. Clinical, laboratory, and molecular markers of type 3 von Willebrand disease. In: Federici AB, Lee CA, Berntorp EE, Lillicrap D, Montgomery RR, editors. Von Willebrand Disease: Basic and Clinical Aspects. Oxford, UK: Wiley-Blackwell, 2011. pp 148-165.
5. Shelton-Inloes BB, Chehab FF, Mannucci PM, et al. Gene deletions correlate with the development of alloantibodies in von Willebrand disease. J Clin Invest 1987; 79: 1459-1465.
6. Ngo KY, Glotz VT, Koziol JA, et al. Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand diease. Proc Natl Acad Sci USA 1988; 85: 2753-2757.
7. Peake IR, Liddell MB, Moodie P, et al. Severe type III von Willebrand's disease caused by deletion of exon 42 of the von Willebrand factor gene: Family studies that identify carriers of the condition and a compound heterozygous individual. Blood 1990; 75: 654-661.
8. Baronciani L, Cozzi G, Canciani MT, et al. Molecular characterization of a multiethnic group of 21 patients with type-3 von Willebrand disease. Thromb Haemost 2000; 84: 536-540.
9. Federici AB, Bucciarelli P, Castaman G, et al. Management of inherited von Willebrand disease in Italy: Results from the retrospective study on 1234 patients. Semin Thromb Hemost 2011; 37: 511-521.
10. Tosetto A, Rodeghiero F, Castaman G, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost 2006; 4: 766-773.
11. Baronciani L, Federici AB, Cozzi G et al. Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease. Haemophilia 2008; 14: 549-555.
12. Mannucci PM, Meyer D, Ruggeri ZM, et al. Precipitating antibodies in von Willebrand's disease. Nature 1976; 262: 141-142.
13. Ruggeri ZM, Ciavarella N, Mannucci PM, et al. Familial incidence of precipitating antibodies in von Willebrand disease: A study of four cases. J Lab Clin Med 1979; 94: 60-75.
14. Mannucci PM, Ruggeri ZM, Ciavarella N, et al. Precipitating antibodies to factor VIII/von Willebrand factor in von Willebrand's disease: Effects on replacement therapy. Blood 1981; 57: 25-31.
15. Goodeve AC, Eikenboom JC, Ginsburg D, et al. A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor. Thromb Haemost 2001; 85: 929-931.
16. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: A Laboratory Manual, 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 1989.
17. Cabrera N, Casana P, Cid AR, et al. First application of MLPA method in severe von Willebrand disease. Confirmation of a new large VWF gene deletion and identification of heterozygous carriers. Br J Haematol 2011; 152: 240-242.
18. Wittwer CT, Reed GH, Gundry CN, et al. High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 2003; 49: 853-860.
19. Mohl A, Marschalek R, Masszi T, et al. An Alu-mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary. J Thromb Haemost 2008; 6: 1729-1735.
20. Baronciani L, Federici AB, Punzo M, et al. Type 2A (IIH) von Willebrand disease is due to mutations that affect von Willebrand factor multimerization. J Thromb Haemost 2009; 7: 1114-1122.
21. Baronciani L, Cozzi G, Canciani MT, et al. Molecular defects in type 3 von Willebrand disease: Updated results from 40 multiethnic patients. Blood Cell Mol Dis 2003; 30: 264-270.
22. Schneppenheim R, Krey S, Bergmann F, et al. Genetic heterogeneity of severe von Willebrand disease type III in the German population. Hum Genet 1994; 94: 640-652.
23. Eikenboom JCJ, Castaman G, Vos HL, et al. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb Haemost 1998; 79: 709-717.
24. Abuzenadah AM, Gursel T, Ingerslev J, et al. Mutational analysis of the von Willebrand factor gene in 27 families from Turkey with von Willebrand disease. Thromb Haemost 1999; 82 ( Suppl): 283.
25. Zhang ZP, Blombäck M, Egberg N, et al. Characterization of the von Willebrand factor gene (vWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin. Genomics 1994; 21: 188-193.
26. Bahnak BR, Lavergne JM, Rothschild C, Meyer D. A stop codon in a patient with severe type III von Willebrand disease. Blood 1991; 78: 1148-1149.
27. Zhang ZP, Lindstedt M, Falk G, et al. Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. Am J Hum Genet 1992; 51: 850-858.
28. Cooper DN, Krawczak M. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet 1990; 85: 55-74.
29. Plate M, Duga S, Baronciani L, et al. Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay. Haematologica 2010; 95: 172-174.
30. Tjernberg P, Vos HL, Castaman G, et al. Dimerization and multimerization defects of von Willebrand factor due to mutated cysteine residues. J Thromb Haemost 2004; 2: 257-265.
31. Budde U, Scharf RE, Franke P, et al. Elevated platelet count as a cause of abnormal von Willebrand factor multimer distribution in plasma. Blood 1993; 82: 1749-1757.