De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism

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dc.contributor.author El Maarri, Osman
dc.contributor.author Oldenburg, Johannes
dc.contributor.author Rost, Simone
dc.contributor.author Leuer, Marco
dc.contributor.author Olek, Klaus
dc.contributor.author Muller, Clemen R.
dc.contributor.author Schwaab, Rainer
dc.date.accessioned 2017-09-12T10:02:53Z
dc.date.available 2017-09-12T10:02:53Z
dc.date.copyright 2000 en_US
dc.identifier.issn 1528-0020 en_US
dc.identifier.uri http://hdl.handle.net/10725/6163
dc.description.abstract The intron 22 inversion represents the most prevalentfactor VIII gene defect in severe hemophilia A, accounting for about 40% of all mutations. It is hypothesized that the inversion mutations occur almost exclusively in germ cells during meiotic cell division by intrachromosomal recombination between 1 of 2 telomeric copies of the Int22h region and its intragenic homologue. The majority of inversion mutations originate in male germ cells, where the lack of bivalent formation may facilitate flipping of the telomeric end of the single X chromosome. This is the first intron 22 inversion that presents as a somatic mosaicism in a female, affecting only about 50% of lymphocyte and fibroblast cells of the proposita. Supposing a post-zygotic de novo mutation as the usual cause of somatic mosaicism, the finding would imply that the intron 22 inversion mutation is not restricted to meiotic cell divisions but can also occur during mitotic cell divisions, either in germ cell precursors or in somatic cells. en_US
dc.language.iso en en_US
dc.title De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SAS en_US
dc.author.idnumber 201508713 en_US
dc.author.department Natural Sciences en_US
dc.description.embargo N/A en_US
dc.relation.journal Blood en_US
dc.journal.volume 96 en_US
dc.journal.issue 8 en_US
dc.article.pages 2905-2906 en_US
dc.identifier.ctation Oldenburg, J., Rost, S., El-Maarri, O., Leuer, M., Olek, K., Müller, C. R., & Schwaab, R. (2000). De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism. Blood, 96(8), 2905-2906. en_US
dc.author.email osman.elmaarri@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url http://www.bloodjournal.org/content/96/8/2905.short?sso-checked=true en_US
dc.author.affiliation Lebanese American University en_US

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