Spectrum of causative mutations in patients with haemophilia A in Austria

Thrombosis and Haemostasis

Volumn 104, Issue 1, 2010, Pages 78-85

  Reitter, Sylvia ^a   Sturn, Rümuth ^a   Horvath, Birgit ^a   Freitag, Renate ^a   Male, Christoph ^a   Muntean, Wolfgang ^b   Streif, Werner ^c   Pabinger, Ingrid ^a   Mannhalter, Christine ^a   Bauer, F ^b   Endres, G ^d   Gabriel, C ^d   Heistinger, M ^e   Jones, N ^f   Rosenlechner, S ^f   Schmitt, K ^d   Wank, H ^g   Zanier, U ^d   Zwiauer, K ^d  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d Medical University of Graz ^*  (Austria)

^e GENERAL HOSPITAL KLAGENFURT   (Austria)

^f UNIVERSITY OF SALZBURG   (Austria)

^g ST ANNA CHILDREN S HOSPITAL   (Austria)

Author keywords

Austria; Haemophilia; Mutation analysis

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUSTRIA; CHILD; COHORT ANALYSIS; ETHNICITY; GENE DELETION; GENE INSERTION; HEMOPHILIA A; HUMAN; INFANT; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AUSTRIA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FACTOR VIII; FEMALE; HEMOPHILIA A; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; SEQUENCE INVERSION;

EID: 77954359089     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH09-11-0795     Document Type: Article

References (25)

1. Haldane JBS. The rate of spontaneous mutation of a human gene. J Genetics 1935; 31: 317-326.
2. White GC, Rosendaal F, Aledort LM, et al. Definitions in hemophilia - Recommendation of the Scientific Subcommittee on factor VIII and factor IX of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 2001; 85: 560.
3. Bicocchi MP, Pasino M, Lanza T, et al. Analysis of 18 novel mutations in the factor VIII gene. Br J Haematol 2003; 122: 810-817.
4. Kemball-Cook G, Tuddenham EGD, Wacey AI. The Factor VIII Structure and Mutation Resource Site: HAMSTeRS Version 4. Nucleic Acids Res 1998; 26: 216-219.
5. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor- Viii gene are a common-cause of severe hemophilia-A. Nature Genet 1993; 5: 236-241.
6. Bagnall RD, Waseem N, Green PM, et al. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-174.
7. Green PM, Bagnall RD, Waseem NH, et al. Haemophilia A mutations in the UK: results of screening one-third of the population. Br J Haematol 2008; 143: 115-128.
8. Green PM, Montandon AJ, Ljung R, et al. Hemophilia-B Mutations in A Complete Swedish Population-Sample - A Test of New Strategy for the Genetic-Counseling of Diseases with High Mutational Heterogeneity. Br J Haematol 1991; 78: 390-397.
9. Higuchi M, Kazazian HH, Kasch L, et al. Molecular Characterization of Severe Hemophilia-A Suggests That About Half the Mutations Are Not Within the Coding Regions and Splice Junctions of the Factor-Viii Gene. Proc Natl Acad Sci USA 1991; 88: 7405-7409.
10. Green PM, Bagnall RD, Waseem NH, et al. Haemophilia A mutations in the UK: results of screening one-third of the population. Br J Haematol 2008; 143: 115-128.
11. Bagnall RD, Waseem N, Green PM, et al. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-174.
12. Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998; 92: 1458-1459.
13. CMGS website Sequencing Best Practice Guidelines. Available at: http://www. cmgs.org/BPGs/Best-Practice-Guidelines.htm (Accessed on 6-16-2009). Communication
14. Vlot AJ, Koppelman SJ, Bouma BN, et al. Factor VIII and von Willebrand factor. Thromb Haemost 1998; 79: 456-465.
15. Sheffield Database. Available at: http://www.vwf.group.shef.ac.uk/ (Accessed on 6-16-2009).
16. den Dunnen JT, Antonarakis E. Nomenclature for the description of human sequence variations. Hum Genetics 2001; 109: 121-124.
17. Theophilus BDM, Enayat MS, Williams MD, et al. Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A. Haemophilia 2001; 7: 381-391.
18. Haemophilia B Database. Available at: http://www.kcl.ac.uk/ip/petergreen/ haemBdatabase.html (Accessed on 7-24-2009).
19. Oldenburg J, Ananyeva NM, Saenko EL. Molecular basis of haemophilia A. Haemophilia 2004; 10: 133-139.
20. Margaglione M, Castaman G, Morfini M, et al. The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype. Haematologica 2008; 93: 722-728.
21. Green PM, Bagnall RD, Waseem NH, et al. Haemophilia A mutations in the UK: results of screening one-third of the population. Br J Haematol 2008; 143: 115-128.
22. Margaglione M, Castaman G, Morfini M, et al. The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype. Haematologica 2008; 93: 722-728.
23. Green PM, Bagnall RD, Waseem NH, et al. Haemophilia A mutations in the UK: results of screening one-third of the population. Br J Haematol 2008; 143: 115-128.
24. Oldenburg J, Ananyeva NM, Saenko EL. Molecular basis of haemophilia A. Haemophilia 2004; 10: 133-139.
25. Margaglione M, Castaman G, Morfini M, et al. The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype. Haematologica 2008; 93: 722-728.