Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 164, Issue 9, Pages 2324-2327Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36564
Keywords
Xp22.13 duplication; ARX; chromosomal microarray analysis
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Funding
- French Ministere des Affaires sociales et de la Sante
- Assistance Publique-Hopitaux de Marseille
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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. (C) 2014 Wiley Periodicals, Inc.
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