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Whole ARX Gene Duplication is Compatible With Normal Intellectual Development
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics. Uppsala University, Science for Life Laboratory, SciLifeLab.
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2014 (English)In: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833, Vol. 164A, no 9, 2324-2327 p.Article in journal (Refereed) Published
Abstract [en]

We report here on four males from three families carrying de novo or inherited small Xp22.13 duplications including the ARX gene detected by chromosomal microarray analysis (CMA). Two of these males had normal intelligence. Our report suggests that, unlike other XLMR genes like MECP2 and FMR1, the presence of an extra copy of the ARX gene may not be sufficient to perturb its developmental functions. ARX duplication does not inevitably have detrimental effects on brain development, in contrast with the effects of ARX haploinsufficiency. The abnormal phenotype ascribed to the presence of an extra copy in some male patients may have resulted from the effect of another, not yet identified, chromosomal or molecular anomaly, alone or in association with ARX duplication.

Place, publisher, year, edition, pages
2014. Vol. 164A, no 9, 2324-2327 p.
Keyword [en]
Xp22.13 duplication, ARX, chromosomal microarray analysis
National Category
Medical Genetics
URN: urn:nbn:se:uu:diva-232575DOI: 10.1002/ajmg.a.36564ISI: 000340669200026OAI: oai:DiVA.org:uu-232575DiVA: diva2:749622
Available from: 2014-09-24 Created: 2014-09-22 Last updated: 2014-09-24Bibliographically approved

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Thuresson, Ann-Charlotte
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