An Alu-mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary

Journal of Thrombosis and Haemostasis

Volumn 6, Issue 10, 2008, Pages 1729-1735

  Mohl, Adrienn ^a   Marschalek, R ^b   Masszi, T ^c   Nagy, E ^a   Obser, T ^d   Oyen, F ^d   Sallai, K ^a   Bodo I ^a,c   Schneppenheim, R ^d  

^a SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

^b GOETHE UNIVERSITY   (Germany)

^c Szent Laszlo Hospital   (Hungary)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Alu sequence; Gene deletion; Type 3; Von Willebrand disease

Indexed keywords

CD9 ANTIGEN; VON WILLEBRAND FACTOR;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALLELE; ALU SEQUENCE; ANTIGEN DETECTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FOUNDER EFFECT; GENE DELETION; GENE DOSAGE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC RECOMBINATION; GENETIC SCREENING; HUMAN; HUNGARY; INTRON; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VON WILLEBRAND DISEASE; VON WILLEBRAND DISEASE TYPE 3;

5' FLANKING REGION; ALU ELEMENTS; EXONS; FAMILY; FOUNDER EFFECT; GENE DELETION; GENE FREQUENCY; HUMANS; HUNGARY; INTRONS; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 52449132404     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2008.03107.x     Document Type: Article

References (33)

1. Eikenboom JC. Congenital von Willebrand disease type 3: Clinical manifestations, pathophysiology and molecular biology. Best Pract Res Clin Haematol 2001; 14: 365-79.
2. Federici AB. Clinical diagnosis of von Willebrand disease. Haemophilia 2004; 10(Suppl. 4): 169-76.
3. Schneppenheim R, Krey S, Bergmann F, Bock D, Budde U, Lange M, Linde R, Mittler U, Meili E, Mertes G, Olek K, Plendl H, Simeoni E. Genetic heterogeneity of severe von Willebrand disease type III in the German population. Hum Genet 1994; 94: 640-52.
4. Sadler JE. Biochemistry and genetics of von Willebrand factor. Annu Rev Biochem 1998; 67: 395-424.
5. Mancuso DJ, Tuley EA, Westfield LA, Worrall NK, Shelton-Inloes BB, Sorace JM, Alevy YG, Sadler JE. Structure of the gene for human von Willebrand factor. J Biol Chem 1989; 264: 19514-27.
6. Zhang ZP, Falk G, Blomback M, Egberg N, Anvret M. A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients. Hum Mol Genet 1992;1: 767-8.
7. Gazda H, Budde U, Krey S, Rokicka-Milewska R, Schneppenheim R. Delta.C in exon 18 of the von Willebrand factor gene is the most common mutation in patients with severe von Willebrand disease type 3 in Poland. Blood 1997; 90(Suppl.): 566a (Abstract).
8. Zhang ZP, Lindstedt M, Falk G, Blomback M, Egberg N, Anvret M. Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand's disease type III and type I. Am J Hum Genet 1992; 51: 850-8.
9. Eikenboom JC, Ploos van Amstel HK, Reitsma PH, Briet E. Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA. Thromb Haemost 1992; 68: 448-54.
10. Schneppenheim R, Castaman G, Federici AB, Kreuz W, Marschalek R, Oldenburg J, Oyen F, Budde U. A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3. J Thromb Haemost 2007; 5: 722-8.
11. Shelton-Inloes BB, Chehab FF, Mannucci PM, Federici AB, Sadler JE. Gene deletions correlate with the development of alloantibodies in von Willebrand disease. J Clin Invest 1987; 79: 1459-65.
12. Baronciani L, Cozzi G, Canciani MT, Peyvandi F, Srivastava A, Federici AB, Mannucci PM. Molecular characterization of a multiethnic group of 21 patients with type 3 von Willebrand disease. Thromb Haemost 2000; 84: 536-40.
13. Baronciani L, Cozzi G, Canciani MT, Peyvandi F, Srivastava A, Federici AB, Mannucci PM. Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients. Blood Cells Mol Dis 2003; 30: 264-70.
14. Tout H, Obert B, Houllier A, Fressinaud E, Rothschild C, Meyer D, Girma JP. Mapping and functional studies of two alloantibodies developed in patients with type 3 von Willebrand disease. Thromb Haemost 2000; 83: 274-81.
15. Xie F, Wang X, Cooper DN, Chuzhanova N, Fang Y, Cai X, Wang Z, Wang H. A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regions. Blood Cells Mol Dis 2006; 36: 385-91.
16. Eikenboom J, Van Marion V, Putter H, Goodeve A, Rodeghiero F, Castaman G, Federici AB, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Lethagen S, Pasi J, Hill F, et. al. Linkage analysis in families 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 2006; 4: 774-82.
17. Tosetto A, Rodeghiero F, Castaman G, Goodeve A, Federici AB, Batlle J, Meyer D, Fressinaud E, Mazurier C, Goudemand J, Eikenboom J, Schneppenheim R, Budde U, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Lethagen S, Pasi J, Hill F, 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: 766-73.
18. Gupta PK, Adamtziki E, Budde U, Jaiprakash M, Kumar H, Harbeck-Seu A, Kannan M, Oyen F, Obser T, Wedekind I, Saxena R, Schneppenheim R. Gene conversions are a common cause of von Willebrand disease. Br J Haematol 2005; 130: 752-8.
19. Elliott B, Richardson C, Jasin M. Chromosomal translocation mechanisms at intronic alu elements in mammalian cells. Mol Cell 2005; 17: 885-94.
20. Rudiger NS, Gregersen N, Kielland-Brandt MC. One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 1995; 23: 256-60.
21. Ricci V, Regis S, Di Duca M, Filocamo M. An Alu-mediated rearrangement as cause of exon skipping in Hunter disease. Hum Genet 2003; 112: 419-25.
22. Deininger PL, Batzer MA. Alu repeats and human disease. Mol Genet Metab 1999; 67: 183-93.
23. Cordaux R, Hedges DJ, Herke SW, Batzer MA. Estimating the retrotransposition rate of human Alu elements. Gene 2006; 373: 134-7.
24. Bergamaschini L, Mannucci PM, Federici AB, Coppola R, Guzzoni S, Agostoni A. Posttransfusion anaphylactic reactions in a patient with severe von Willebrand disease: Role of complement and alloantibodies to von Willebrand factor. J Lab Clin Med 1995; 125: 348-55.
25. Mannucci PM, Tamaro G, Narchi G, Candotti G, Federici A, Altieri D, Tedesco F. Life-threatening reaction to factor VIII concentrate in a patient with severe von Willebrand disease and alloantibodies to von Willebrand factor. Eur J Haematol 1987; 39: 467-70.
26. Mannucci PM, Federici AB. Antibodies to von Willebrand factor in von Willebrand disease. Adv Exp Med Biol 1995; 386: 87-92.
27. Lak M, Peyvandi F, Mannucci PM. Clinical manifestations and complications of childbirth and replacement therapy in 385 Iranian patients with type 3 von Willebrand disease. Br J Haematol 2000; 111: 1236-9.
28. Eikenboom JC, Castaman G, Vos HL, Bertina RM, Rodeghiero F. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb Haemost 1998; 79: 709-17.
29. Peake IR, Liddell MB, Moodie P, Standen G, Mancuso DJ, Tuley EA, Westfield LA, Sorace JM, Sadler JE, Verweij CL, 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: 654-61.
30. Mancuso DJ, Tuley EA, Castillo R, de Bosch N, Mannucci PM, Sadler JE. Characterization of partial gene deletions in type III von Willebrand disease with alloantibody inhibitors. Thromb Haemost 1994; 72: 180-5.
31. Ngo KY, Glotz VT, Koziol JA, Lynch DC, Gitschier J, Ranieri P, Ciavarella N, Ruggeri ZM, Zimmerman TS. Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease. Proc Natl Acad Sci USA 1988; 85: 2753-7.
32. Rossetti LC, Candela M, Bianco RP, de Tezanos Pinto M, Western A, Goodeve A, Larripa IB, De Brasi CD. Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature. Blood Coagul Fibrinolysis 2004; 15: 569-72.
33. Zhang ZP, Lindstedt M, Falk G, Blomback M, Egberg N, Anvret M. 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: 850-8.