Factor VIII gene inversions in severe hemophilia A: results of an international consortium study
Stylianos E. Antonarakis,J. P. Rossiter,M. Young,J. Horst,P. De Moerloose,S. S. Sommer,Rhett P. Ketterling,H. H. Kazazian,Claude Negrier,Christine Vinciguerra,Jane Gitschier,Michel Goossens,E. Girodon,N. Ghanem,F. Plassa,Jean-Maurice Lavergne,M. Vidaud,J. M. Costa,Y. Laurian,S. W. Lin,S. R. Lin,M. C. Shen,David Lillicrap,Sherryl A. M. Taylor,S. Windsor,Sophie Valleix,K. Nafa,Y. Sultan,Marc Delpech,Cindy L. Vnencak-Jones,John A. Phillips,Rolf Ljung,E. Koumbarelis,A. Gialeraki,T. Mandalaki,P. V. Jenkins,Peter William Collins,K. J. Pasi,Anne Goodeve,Ian R. Peake,F. E. Preston,Marianne Schwartz,Elma Scheibel,Jørgen Ingerslev,David Neil Cooper,David Stuart Millar,V. V. Kakkar,F. Giannelli,J.A. Naylor,E. F. Tizzano,M. Baiget,M. Domenech,Carmen Altisent,J. Tusell,M. Beneyto,J. I. Lorenzo,Christine Gaucher,Claudine Mazurier,Kathelijne Peerlinck,Gert Matthijs,Jj. Cassiman,Jozef Vermylen,P. G. Mori,M. Acquila,D. Caprino,Hiroshi Inaba +65 more
TLDR
The presence of factor VII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors than patients without inversions.About:
This article is published in Blood.The article was published on 1995-09-15 and is currently open access. It has received 316 citations till now.read more
Citations
More filters
Journal ArticleDOI
The origins, patterns and implications of human spontaneous mutation
TL;DR: It is suggested that quasi-truncation selection is the principal explanation for how the population can rid itself of a large number of mutations with a relatively low fitness cost.
Journal ArticleDOI
WFH Guidelines for the Management of Hemophilia, 3rd edition
Alok Srivastava,Elena Santagostino,Alison Dougall,Steve Kitchen,Megan Sutherland,Steven W. Pipe,Manuel Carcao,Johnny Mahlangu,Margaret V. Ragni,Jerzy Windyga,Adolfo Llinás,Nicholas J. Goddard,Richa Mohan,Pradeep M. Poonnoose,Brian M. Feldman,Sandra Zelman Lewis,H. Marijke van den Berg,Glenn F. Pierce +17 more
TL;DR: The WFH Guidelines for the Management of Hemophilia panelists and co-authors thank the panelists for their time and share their views on how to better understand and treat hemophilia.
Journal ArticleDOI
The high spontaneous mutation rate: Is it a health risk?
TL;DR: The most reasonable way in which a species can cope with a high mutation rate is by quasi-truncation selection, whereby a number of mutant genes are eliminated by one "genetic death."
Journal ArticleDOI
Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.
TL;DR: 10 inversions are identified, affecting F8 genes with 5 different haplotypes for the BclI, introns 13 and 22 VNTR polymorphism, among 209 unrelated families with severe hemophilia A, demonstrating that they cause inversions by intrachromosome or intrACHromatid homologous recombination.
Journal ArticleDOI
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
Priya S. Kishnani,Paula Goldenberg,Stephanie L. Dearmey,James H. Heller,Daniel K. Benjamin,Sarah P. Young,Deeksha Bali,Sue Ann Smith,Jennifer S. Li,Hanna Mandel,Dwight D. Koeberl,Amy S. Rosenberg,Yuan-Tsong Chen,Yuan-Tsong Chen +13 more
TL;DR: The effect of CRIM status on outcome appears to be mediated by antibody responses to the exogenous protein, which predicted reduced overall survival and invasive ventilator-free survival and poorer clinical outcomes in infants with Pompe disease treated with rhGAA.
References
More filters
Journal ArticleDOI
Characterization of the human factor VIII gene
Jane Gitschier,William I. Wood,Therese M. Goralka,Karen L. Wion,Ellson Y. Chen,Dennis H. Eaton,Gordon A. Vehar,Daniel J. Capon,Richard M. Lawn +8 more
TL;DR: The complete 186,000 base-pair (bp) human factor VIII gene has been isolated and consists of 26 exons ranging in size from 69 to 3,106 bp and introns as large as 32.4 kilobases as mentioned in this paper.
Journal ArticleDOI
Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions
TL;DR: It is demonstrated that the mutations in the patients are inversions of long DNA regions possibly involving the repeated sequences and occurring at the surprising rate of approximately 4 x 10(-6) per gene per gamete per generation.
Journal ArticleDOI
A transcribed gene in an intron of the human factor VIII gene.
TL;DR: Northern blot analysis of RNA isolated from hemophilia patients deleted for factor VIII sequences has shown that both the intron gene and at least one other copy of the gene are transcribed.
Journal ArticleDOI
Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells
Judith Pratt Rosslter,Michele Young,Michele Young,Michelle L. Kimberland,Pierre Hutter,Pierre Hutter,Rhett P. Ketterling,Jane Gitschier,Jane Gitschier,Jürgen Horst,Jürgen Horst,Michael A. Morris,Michael A. Morris,Daniel J. Schaid,Phillppe de Moerloose,Phillppe de Moerloose,Steve S. Sommer,Steve S. Sommer,Haig H. Kazazian,Styllanos E. Antonarakis,Styllanos E. Antonarakis +20 more
TL;DR: DNA polymorphism analysis determined that factor VIII gene inversions leading to severe hemophilia A occur almost exclusively in male germ cells, indicating that pairing of Xq with its homolog inhibits the inversion process.