Journal ArticleDOI
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female
Rémi Favier,Jean-Maurice Lavergne,Jean-Marc Costa,Claudine Caron,Claudine Mazurier,Michèle Viémont,Marc Delpech,Sophie Valleix +7 more
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TLDR
The severe hemophilia A in the proposita results from a de novo F8 gene frameshift-stop mutation on the paternally derived X chromosome, associated with a nonrandom pattern of inactivation of the maternallyderived X chromosome.About:
This article is published in Blood.The article was published on 2000-12-15. It has received 44 citations till now. The article focuses on the topics: Skewed X-inactivation & X-linked recessive inheritance.read more
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Journal ArticleDOI
Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes
Catharina Whybra,C. Kampmann,I. Willers,Jessica Davies,Bryan Winchester,Jörg Kriegsmann,K. Brühl,Andreas Gal,S. Bunge,Mathias Beck +9 more
TL;DR: It appears that Anderson–Fabry disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant disease.
Journal ArticleDOI
Severe and moderate haemophilia A and B in US females.
TL;DR: The genetics, clinical phenotype and quality of life issues in female patients with severe/moderate haemophilia are elucidated and novel mechanistic questions are raised about the relationship between XIP and both age and tissue‐specific FVIII and FIX expression.
Journal ArticleDOI
Molecular mechanisms underlying hemophilia A phenotype in seven females
TL;DR: The HA phenotype results from a heterozygous small deletion affecting the F8 gene and a complete inactivation of the maternal X chromosome, which segregates with Coffin–Lowry syndrome in the two brothers of the proposita.
Journal ArticleDOI
Haemophilia A : molecular insights
Giuseppe Castaldo,Valeria D'Argenio,Paola Nardiello,Federica Zarrilli,Veronica Sanna,Angiola Rocino,Antonio Coppola,Giovanni Di Minno,Francesco Salvatore +8 more
TL;DR: Haemophilia A is the most common inherited bleeding disorder caused by defects in the F8C gene that encodes coagulation factor VIII, and molecular diagnosis of carrier status and prenatal diagnosis in families without intron 22 or 1 inversions is based on scanning techniques or gene sequencing.
Journal ArticleDOI
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM
Shin-Yu Lin,Yi Ning Su,Chia Cheng Hung,Woei Tsay,Shyh Shin Chiou,Chieh Ting Chang,Hong Nerng Ho,Chien-Nan Lee +7 more
TL;DR: A new mutation scanning technique, high resolution melting analysis (HRM), is considered as a powerful screening tool that would provide a more cost-effective protocol for hemophilia A mutation identification.
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Journal Article
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.
TL;DR: The human androgen-receptor gene (HUMARA) contains a highly polymorphic trinucleotide repeat in the first exon that correlates with X inactivation, and the development of a PCR assay that distinguishes between the maternal and paternal alleles and identifies their methylation status is developed.
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
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.
Delia Lakich,Haig H. Kazazian,Stylianos E. Antonarakis,Stylianos E. Antonarakis,Jane Gitschier +4 more
TL;DR: Evidence is presented to support a model based on the possibility of recombination between homologous sequences located in intron 22 and upstream of the factor VIII gene that leads to an inversion of all intervening DNA and a disruption of the gene.
Journal ArticleDOI
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
TL;DR: 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.
Journal ArticleDOI
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation.
Robert M. Plenge,Brian Hendrich,Charles E. Schwartz,Arena Jf,Anna K. Naumova,Carmen Sapienza,Winter Rm,Huntington F. Willard +7 more
TL;DR: A rare cytosine to guanine mutation in the XIST minimal promoter that underlies both epigenetic and functional differences between the two X chromosomes in nine females from two unrelated families is reported, suggesting that there is an association between alterations in the regulation of XIST expression and X-chromosome inactivation.