The molecular basis of von willebrand disease: The under investigated, the unexpected and the overlooked

Haematologica

Volumn 96, Issue 6, 2011, Pages 798-800

  Hampshire, Daniel J ^a   Goodeve, Anne C ^a,b  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA; VON WILLEBRAND FACTOR;

COPY NUMBER VARIATION; DNA SEQUENCE; EDITORIAL; GENE DELETION; GENE DUPLICATION; GENETIC ASSOCIATION; HUMAN; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PROMOTER REGION; PROTEIN EXPRESSION; VON WILLEBRAND DISEASE;

HUMANS; MUTATION; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

EID: 79958047896     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2011.046623     Document Type: Editorial

References (20)

1. Goodeve AC. The genetic basis of von Willebrand disease. Blood Rev. 2010;24(3):123-134.
2. Johansson AM, Lanke E, Säll T, Lethagen S, Halldén C. A large deletion identified in a Swedish family with type 1 VWD. Thromb Haemost. 2011;105(4):733-734.
3. Bernardi F, Marchetti G, Guerra S, Casonato A, Gemmati D, Patracchini P, et al. A de novo and heterozygous gene deletion causing a variant of von Willebrand disease. Blood. 1990;75(3):677-683.
4. Sutherland MS, Cumming AM, Bowman M, Bolton-Maggs PHB, Bowen DJ, Collins PW, et al. A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. Blood. 2009;114(5):1091-1098.
5. Casari C, Pinotti M, Lancellotti S, Adinolfi E, Casonato A, De Cristofaro R, et al. The dominant-negative von Willebrand factor gene deletion p.P1127_C1948delinsR: molecular mechanism and modulation. Blood. 2010;116(24):5371-5376.
6. Yadegari H, Driesen J, Hass M, Budde U, Pavlova A, Oldenburg J. Large deletions identified in patients with von Willebrand disease by MLPA. J Thromb Haemost. 2011;9(5):1083-1086.
7. Zimmermann MA, Oldenburg J, Müller CR, Rost S. Characterization of duplication breakpoints in the factor VIII gene. J Thromb Haemost. 2010;8(12):2696-2704.
8. Othman M, Chirinian Y, Brown C, Notley C, Hickson N, Hampshire D, et al. Functional characterization of a 13-bp deletion (c.-1522_- 1510del13) in the promoter of the von Willebrand factor gene in type 1 von Willebrand disease. Blood. 2010;116(18):3645-3652.
9. James PD, O'Brien LA, Hegadorn CA, Notley CRP, Sinclair GD, Hough C, et al. A novel type 2A von Willebrand factor mutation located at the last nucleotide of exon 26 (3538G>A) causes skipping of 2 nonadjacent exons. Blood. 2004;104(9):2739-2745.
10. Eikenboom J, Hilbert L, Ribba AS, Hommais A, Habart D, Messenger S, et al. Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study. J Thromb Haemost. 2009;7(8):1304-1312.
11. Daidone V, Gallinaro L, Cattini MG, Pontara E, Bertomoro A, Pagnan A, et al. An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease. Haematologica. 2011;96(6):881-887.
12. James PD, Notley C, Hegadorn C, Leggo J, Tuttle A, Tinlin S, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood. 2007;109(1):145-154.
13. NCBI. db SNP. [cited 30/04/2011]; Available from: http://www.ncbi.nlm.nih.gov/projects/SNP/
14. VWFdb. International Society on Thrombosis and Haemostasis Scientific and Standardization Committee VWF Information Homepage. [cited 30/04/2011]; Available from: www.vwf.group.shef.ac.uk
15. Kimchi-Sarfaty C, Simhadri VL, Kopelman D, Friedman A, Edwards N, Javaid A, et al. The synonymous V107V mutation in factor IX is not so silent and may cause hemophilia B in patients. Blood. 2010;116 (21):abst 2197.
16. Khelifi MM, Ishmukhametova A, Khau Van Kien P, Thorel D, Méchin D, Perelman S, et al. Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? Hum Mutat. 2011;32(4):467-475.
17. Castoldi E, Duckers C, Radu C, Spiezia L, Rossetto V, Tagariello G, et al. Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet rich plasma. J Thromb Haemost. 2011;9(5):9599-9668.
18. Bell J, Bodmer D, Sistermans E, Ramsden S. Practice guidelines for the Interpretation and Reporting of Unclassified Variants (UVs) in Clinical Molecular Genetics. [cited 30/04/2011]; Available from: http://cmgsweb.shared.hosting.zen.co.uk/BPGs/Best_Practice_Guidelines.htm
19. Houdayer C, Dehainault C, Mattler C, Michaux D, Caux-Moncoutier V, Pagès-Berhouet S, et al. Evaluation of in silico splice tools for decision-making in molecular diagnosis. Hum Mutat. 2008;29(7):975-982.
20. Keeney S, Bowen D, Cumming A, Enayat S, Goodeve A, Hill M. The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network. Haemophilia. 2008;14(5):1099-1111.