Identification of a novel candidate splice site mutation (0874+1G>A) in a type 3 von Willebrand disease patient

Thrombosis and Haemostasis

Volumn 98, Issue 2, 2007, Pages 464-466

  Gadisseur, Alain P ^a   Vrelust, Inge ^a   Vangenechten, Inge ^a   Schneppenheim, Reinhard ^b   Van der Planken, Marc ^a  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; BLOOD CLOTTING FACTOR 8; COMPLEMENTARY DNA; GUANINE; THYMINE; VON WILLEBRAND FACTOR;

ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; EXON; FAMILY HISTORY; FAMILY STUDY; GENE AMPLIFICATION; HEMARTHROSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRON; LABORATORY TEST; MALE; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING; TURKEY (REPUBLIC); VON WILLEBRAND DISEASE;

CHILD; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MUTATION; PHENOTYPE; RNA SPLICE SITES; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 34547893016     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH06-08-0433     Document Type: Article

References (16)

1. Keeney S, Cumming AM. The molecular biology of von Willebrand disease. Clin Lab Haematol 2001; 23: 209-230.
2. Sadler JE. A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1994; 71: 520-525.
3. Mazurier C, Ribba AS, Gaucher C, et al. Molecular genetics of von Willebrand disease. Ann Genet 1998; 4: 34-43.
4. James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. Blood 2007; 109: 145-154.
5. Gallinaro L, Sartorello F. Pontara E, et al. Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease. Thromb Haemost 2006; 96: 711-716.
6. Goodeve A, Eikenboom J, Castaman G, et a. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007; 109: 112-121.
7. James PD, Notley C, Hegadorn C, et al., for the Association of Hemophilia Clinic Directors of Canada. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood 2007; 109: 145-154
8. Mancuso DJ, Tuley EA, Westfield LA, et al. Structure of the human gene for von Willebrand Factor. J Biol Chem 1989; 264: 19514-19527.
9. Mazurier C, Meyer D. Molecular basis of von Willebrand disease. Baillieres Clin Haematol 1996; 9: 229-241.
10. Michiels JJ, Gadisseur A, Budde Uet al. Characterization, classification, and treatment of von Willebrand diseases: a critical appraisal of the literature and personal experiences. Semin Thromb Hemost 2005; 31: 577-601.
11. Eikenboom JC. Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology. Best Pract Res Clin Haematol 2001; 14: 365-379.
12. Schneppenheim R, Brassard J, Krey S, et al. Defective dimerisation of von Willebrand factor subunits due to a Cys-Arg mutation in type IID von Willebrand disease. Proc Natl Acad Sci USA 1996; 93: 3581-3586.
13. Goodeve AC, Eikenboom JC, Ginsburg D, et al.; ISTH SSC Subcommittee on von Willebrand factor. 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.
14. Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 1998; 11: 1-3.
15. Sadler JE, Budde U, Eikenboom JC, et al.; The Working Party On Von Willebrand Disease Classification. Update on the pathophysiology and classification of von Willebrand disease: a report of the Sub-committee on von Willebrand Factor. J Thromb Haemost 2006; 4: 2103-2114.
16. Cumming A, Grandy P, Keeney S, et al.; the UK Haemophilia Centre Doctors' Organisation. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost 2006; 96: 630-641.