Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population

British Journal of Haematology

Volumn 131, Issue 1, 2005, Pages 109-117

  Boekhorst, Jorien ^a   Verbruggen, Bert ^a   Lavergne, Jean Maurice ^a   Costa, Jean Marc ^b   Schoormans, Selene C M ^a   Brons, Paul P T ^a   Van Kraaij, Marian G J ^a   Nováková, Irena R O ^a   Van Heerde, Waander L ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b AMERICAN HOSPITAL OF PARIS   (France)

Author keywords

FVIII; Genotype phenotype; Haemophilia A; Inhibitors; Novel mutations

Indexed keywords

BLOOD CLOTTING FACTOR 8; NEUTRALIZING ANTIBODY; BLOOD CLOTTING INHIBITOR;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; FEMALE; GENE INSERTION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HEMOPHILIA A; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NETHERLANDS; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN DOMAIN; BLOOD; COHORT ANALYSIS; EXON; GENETICS; HAPLOTYPE; HETEROZYGOTE; IMMUNOLOGY; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PROTEIN TERTIARY STRUCTURE; RISK ASSESSMENT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BLOOD COAGULATION FACTOR INHIBITORS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR VIII; FEMALE; GENOTYPE; HAPLOTYPES; HEMOPHILIA A; HETEROZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RISK ASSESSMENT;

EID: 27744541337     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2005.05737.x     Document Type: Article

References (27)

1. Adams T.E. Hockin M.F. Mann K.G. Everse S.J. ( 2004) The crystal structure of activated protein C-inactivated bovine factor Va: implications for cofactor function. Proceedings of the National Academy of Sciences of the United States of America, 101, 8918 8923.
2. Antonarakis S.E. ( 1998) Recommendations for a nomenclature system for human gene mutations. Human Mutation, 11, 1 3.
3. Antonarakis S.E. Rossiter J.P. Young M. Horst J. Demoerloose P. Sommer S.S. Ketterling R.P. Kazazian H.H. Negrier C. Vinciguerra C. Gitschier J. Goossens M. Girodon E. Ghanem N. Plassa F. Lavergne J.M. Vidaud M. Costa J.M. Laurian Y. Lin S.W. Lin S.R. Shen M.C. Lillicrap D. Taylor S.A.M. Windsor S. Valleix S.V. Nafa K. Sultan Y. Delpech M. Vnencakjones C.L. Phillips J.A. Ljung R.C.R. Koumbarelis E. Gialeraki A. Mandalaki T. Jenkins P.V. Collins P.W. Pasi K.J. Goodeve A. Peake I. Preston F.E. Schwartz M. Scheibel E. Ingerslev J. Cooper D.N. Millar D.S. Kakkar V.V. Giannelli F. Naylor J.A. Tizzano E.F. Baiget M. Domenech M. Altisent C. Tusell J. Beneyto M. Lorenzo J.I. Gaucher C. Mazurier C. Peerlinck K. Matthijs G. Cassiman J.J. Vermylen J. Mori P.G. Acquila M. Caprino D. Inaba H. ( 1995) Factor-VIII gene inversions in severe hemophilia-A - results of an international consortium study. Blood, 86, 2206 2212.
4. Bagnall R.D. Waseem N. Green P.M. Giannelli F. ( 2002a) Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood, 99, 168 174.
5. Bagnall R.D. Waseem N. Green P.M. Giannelli F. ( 2002b) Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood, 99, 168 174.
6. Bicocchi M.P. Pasino M. Lanza T. Bottini F. Boeri E. Mori P.G. Molinari A.C. Rosano C. Acquila M. ( 2003) Analysis of 18 novel mutations in the factor VIII gene. British Journal of Haematology, 122, 810 817.
7. Bolton-Maggs P.H.B. Pasi K.J. ( 2003) Haemophilias A and B. Lancet, 361, 1801 1809.
8. Bovenschen N. Boertjes R.C. van Stempvoort G. Voorberg J. Lenting P.J. Meijer A.B. Mertens K. ( 2003) Low density lipoprotein receptor-related protein and factor IXa share structural requirements for binding to the A3 domain of coagulation factor VIII. Journal of Biological Chemistry, 278, 9370 9377.
9. DiMichele D. ( 2002) Inhibitors: resolving diagnostic and therapeutic dilemmas. Haemophilia, 8, 280 287.
10. Favier R. Lavergne J.M. Costa J.M. Garon C. Mazurier C. Viemont M. Delpech M. Valleix S. ( 2000) Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female. Blood, 96, 4373 4375.
11. Fay P.J. Beattie T. Huggins C.F. Regan L.M. ( 1994) Factor-VIIIa A2-subunit residues-558-565 represent a factor-IXA interactive site. Journal of Biological Chemistry, 269, 20522 20527.
12. Goodeve A.C. Peake I.R. ( 2003) The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development. Seminars in Thrombosis and Hemostasis, 29, 23 30.
13. Guex N. Peitsch M.C. ( 1997) SWISS-MODEL (http://www.expasy.ch/swissmod/) and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis, 18, 2714 2723.
14. Jorquera J.I. Mcclintock R.A. Roberts J.R. Macdonald M.J. Houghten R.A. Fulcher C.A. ( 1992) Synthetic peptides derived from residues 698 to 710 of factor-VIII inhibit factor-IXa activity. Circulation, 86, 685.
15. Kasper C.K. Aledort L. Aronson D. Counts R. Edson J.R. Eys J.V. Fratantoni J. Green D. Hampton J. Hilgartner M. Levine P. Lazerson J. Mcmillan C. Penner J. Shapiro S. Shulman N.R. ( 1975) More uniform measurement of factor-8 inhibitors. Thrombosis et Diathesis Haemorrhagica, 34, 612.
16. Kim J.W. Park S.Y. Kim Y.M. Kim J.M. Kim D.J. Ryu H.M. ( 2005) Identification of new dinucleotide-repeat polymorphisms in factor VIII gene using fluorescent PCR. Haemophilia, 11, 38 42.
17. Lakich D. Kazazian H.H. Antonarakis S.E. Gitschier J. ( 1993) Inversions disrupting the factor-VIII gene are a common-cause of severe hemophilia A. Nature Genetics, 5, 236 241.
18. Lapan K.A. Fay P.J. ( 1998) Interaction of the A1 subunit of factor VIIIa and the serine protease domain of factor X identified by zero-length cross-linking. Thrombosis and Haemostasis, 80, 418 422.
19. Lenting P.J. van de Loo J.W.H.P. Donath M.J.S.H. VanMourik J.A. Mertens K. ( 1996) The sequence Glu(1811)-Lys(1818) of human blood coagulation factor VIII comprises a binding site for activated factor IX. Journal of Biological Chemistry, 271, 1935 1940.
20. Lenting P.J. van Mourik J.A. Mertens K. ( 1998) The life cycle of coagulation factor VIII in view of its structure and function. Blood, 92, 3983 3996.
21. Lenting P.J. Neels J.G. van den Berg B.M.M. Clijsters P.P.F.M. Meijerman D.W.E. Pannekoek H. van Mourik J.A. Mertens K. van Zonneveld A.J. ( 1999) The light chain of factor VIII comprises a binding site for low density lipoprotein receptor-related protein. Journal of Biological Chemistry, 274, 23734 23739.
22. Liles D.K. Monroe D.M. Roberts H.R. ( 1997) The factor VIII peptide consisting of amino acids 698 to 712 enhances factor IXa cleavage of factor X. Blood, 90, 2054.
23. Oldenburg J. El Maarri O. Schwaab R. ( 2002) Inhibitor development in correlation to factor VIII genotypes. Haemophilia, 8, 23 29.
24. Saenko E.L. Scandella D. ( 1997) The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von Willebrand factor. Journal of Biological Chemistry, 272, 18007 18014.
25. Stoilova-McPhie S. Villoutreix B.O. Mertens K. Kemball-Cook G. Holzenburg A. ( 2002) 3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography. Blood, 99, 1215 1223.
26. Takeshima K. Fujikawa K. ( 1999) The phospholipid binding property of the C2 domain of human factor VIII. Thrombosis and Haemostasis, 737 (Suppl.), 234 235.
27. Verbruggen B. Novakova I. Wessels H. Boezeman J. van den B.M. Mauser-Bunschoten E. ( 1995) The Nijmegen modification of the Bethesda assay for factor VIII:C inhibitors: improved specificity and reliability. Thrombosis and Haemostasis, 73, 247 251.