Factor VIII gene inversions in severe hemophilia A: Results of an international consortium study

Blood

Volumn 86, Issue 6, 1995, Pages 2206-2212

  Antonarakis, S E ^a   Rossiter, J P ^b   Young, M ^b   Horst, J ^b   De Moerloose, P ^b   Sommer, S S ^b   Ketterling, R P ^b   Kazazian Jr , H H ^b   Negrier C ^b   Vinciguerra, C ^b   Gitschier, J ^b   Goossens, M ^b   Girodon, E ^b   Ghanem, N ^b   Plassa, F ^b   Lavergne, J M ^b   Vidaud, M ^b   Costa, J M ^b   Laurian, Y ^b   Lin, S W ^b   Lin, S R ^b   Shen, M C ^b   Lillicrap, D ^b   Taylor, S A M ^b   Windsor, S ^b   Valleix, S V ^b   Nafa, K ^b   Sultan, Y ^b   Delpech, M ^b   Vnencak Jones, C L ^b   Phillips III, J A ^b   Ljung, R C R ^b   Koumbarelis, E ^b   Gialeraki, A ^b   Mandalaki, T ^b   Jenkins, P V ^b   Collins, P W ^b   Pasi, K J ^b   Goodeve, A ^b   Peake, I ^b   Preston, F E ^b   Schwartz, M ^b   Scheibel, E ^b   Ingerslev, J ^b   Cooper, D N ^b   Millar, D S ^b   Kakkar, V V ^b   Giannelli, F ^b   Naylor, J A ^b   Tizzano, E F ^b   Baiget, M ^b   Domenech, M ^b   Altisent, C ^b   Tusell, J ^b   Beneyto, M ^b   Lorenzo, J I ^b   Gaucher, C ^b   Mazurier, C ^b   Peerlinck, K ^b   Matthijs, G ^b   Cassiman, J J ^b   Vermylen, J ^b   Mori, P G ^b   Acquila, M ^b   Caprino, D ^b   Inaba, H ^b   more..

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 INHIBITOR; DNA;

ARTICLE; CHROMOSOME INVERSION; CONTROLLED STUDY; GERM CELL; HEMOPHILIA A; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

EID: 0029095603     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v86.6.2206.bloodjournal8662206     Document Type: Article

References (27)

1. Hoyer LW: Hemophilia A. N Engl J Med 330:38, 1994
2. Gitschier J, Goralka TM, Wion KL, Chen EY, Eaton DE, Vehar GA, Capon DJ, Lawn RM: Characterization of the human factor VIII gene. Nature 312:326, 1984
3. Antonarakis SE, Kazazian HH Jr, Tuddenham EGD: Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mutat 5:1, 1995
4. Higuchi M, Antonarakis SE, Kasch L, Oldenburg J, Economou-Petersen E, Olek K, Inaba H, Kazazian HH: Towards a complete characterization of mild to moderate hemophilia A: Detection of the molecular defect in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 88:8307, 1991
5. Higuchi M, Kazazian HH, Kasch L, Warren TC, McGinniss MJ, Phillips JA, Kasper C, Janco R, Antonarakis SE: Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding region and splice junctions of the factor VIII gene. Proc Natl Acad Sci USA 88:7405, 1991
6. Naylor JA, Green PM, Rizza CR, Gianelli F: Analysis of factor VIII mRNA reveals defects in every one of 28 hemophilia A patients. Hum Mol Genet 2:11, 1993
7. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J: Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A. Nature Genet 5:236, 1993
8. Naylor JA, Brinke A, Hassock S, Green PM, Giannelli F: Characteristic mRNA abnormality found in half the patients with severe hemophilia A is due to large DNA inversions. Hum Mol Genet 2:1773, 1993
9. Levinson B, Kenwrick S, Lakich D, Hammonds G, Gitschier J: A transcribed gene in an intron of the human factor VIII gene. Genomics 7:1, 1990
10. Levinson B, Bermingham JR, Metzenberg A, Kenwrick S, Chapman V, Gitschier J: Sequence of the human factor VIII-associated gene is conserved in mouse. Genomics 13:862, 1992
11. Levinson B, Kenwrick S, Gamel P, Fisher K, Gitschier J: Evidence for a third transcript from the human factor VIII gene. Genomics 14:585, 1992
12. Freije D, Schlessinger D: A 1.6-Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus. Am J Hum Genet. 51:66, 1992
13. Palmieri G, Romano G, Ciccodicola A, Casamassimi A, Campanile C, Esposito T, Cappa V, Lania A, Johnson S, Reinbold R, Poustka A, Schlessinger D, Durso M: YAC Contig organization and CpG island analysis in Xq28. Genomics 24:149, 1994
14. Rossiter JP, Young M, Kimberland ML, Hutter P, Ketterling RP, Gitschier J, Horst J, Morris MA, Schaid DJ, deMoerloose P, Sommer SS, Kazazian HH, Antonarakis SE: Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 3:1035, 1994
15. Ljung RCR: Intron 22 inversions and haemophilia. Lancet 343:791, 1994
16. Tizzano EF, Domenech M, Altisent C, Tusell J, Baiget M: Inversions in the factor VIII gene in Spanish hemophilia A patients. Blood 83:3826, 1994
17. Tizzano EF, Altisent C, Tusell J, Domenech M, Baiget M: Intron 22 inversions and haemophilia. Lancet 343:792, 1994
18. Millar DS, Kakkar VV, Cooper DN: Screening for inversions in the factor VIII (F8) gene causing severe haemophilia A. Blood Coag Fibrinol. 5:239, 1994
19. Windsor S, Taylor SAM, Lillicrap D: Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A. Blood 84:2202, 1994
20. Jenkins PV, Collins PW, Goldman E, Mccraw A, Riddell A, Lee CA, Pasi KJ: Analysis of intron 22 inversions of the factor VIII gene in severe hemophilia A-Implications for genetic counseling. Blood 84:2197, 1994
21. Goodeve AC, Preston FE, Peake IR: Factor VIII gene rearrangements in patients with severe haemophilia A. Lancet 343:329, 1994
22. Inaba H, Shibata H, Yoshida S, Hagiwara T, Hanabusa H, Nagao T, Fukutake K: Inversion in Japanese patients with hemophilia A. Thromb Haemost 1995 (in press)
23. Van de Water NS, Williams R, Nelson J, Browett PJ: Inversions of the factor VIII gene in severe hemophilia A, Blood 84:62a. 1994 (abstr, suppl 1)
24. Acquila M, Caprino D, Binocchi P, Mori MP: New tool in the carrier detection and prenatal diagnosis of hemophilia A. Blood 84:62a, 1994 (abstr, supp1 1)
25. Vnencak-Jones CL, Phillips JA III, Janco RL, Cohen MP, Kazazian HH Jr, Rossiter JP: Analysis of factor VIII gene intrachromosomal inversions in 166 unrelated hemophilia A families. Blood 84:239a, 1994 (abstr, suppl 1)
26. Gaucher C, Mazurier C: Characterization of factor VIII gene inversions using a non-radioactive detection method: A survey of 102 unrelated hemophilia A patients from Northern France. Nouv Rev Fr Hematol 37:131, 1995
27. Figueiredo MS, Tavella MH, Simoes BP: Large DNA inversions, deletions, and TaqI site mutations in severe hemophilia A. Hum Genet 94:473, 1994