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Published online before print November 2, 2006, doi:10.1212/01.wnl.0000247833.29314.5b)
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NEUROLOGY 2006;67:2073-2075
© 2006 American Academy of Neurology
Brief Communications

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation

K. Szczaluba, MD, M. Nawara, MS, K. Poirier, MS, J. Pilch, MD, PhD, M. Gajdulewicz, MD, K. Spodar, MD, J. Chelly, MD, PhD, J. Bal, PhD and T. Mazurczak, MD, PhD

From the Department of Medical Genetics (K.S., M.N., J.B., T.M.), National Institute of Mother and Child, Warsaw; Institut Cochin (K.P., J.C.), Paris, France; Department of Neurology (J.P.), Medical University of Silesia, Katowice, Poland; Department of Medical Genetics (M.G., K.S.), The Children’s Memorial Health Institute, Warsaw, Poland; and Postgraduate School of Molecular Medicine (M.N.), Poland.

Address correspondence and reprint requests to Dr. Szczaluba Krzysztof, Department of Medical Genetics, National Institute of Mother and Child, Kasprzaka 17A St, 01-211 Warsaw, Poland; e-mail: kszczaluba{at}imid.med.pl

We screened 165 mentally retarded patients for ARX gene 428-451 base pair (bp) duplication. Eighteen individuals from five families were found to carry the duplication, and all had intellectual impairment. Twelve presented with focal hand dystonia, while six patients had EEG abnormalities including seizures. Other symptoms included speech difficulties (4/18), testis enlargement (4/18), lower limb spasticity or foot dystonia (4/18), and facial telangiectasia (3/18). These features confirm the pleiotropic effect of the duplication.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the December 12 issue to find the title link for this article.

This article was previously published in electronic format as an Expedited E-Pub on November 1, 2006, at www.neurology.org.

Sponsored by Polish Health Ministry grant PBZ-KBN-122/P05/2004/01-9.

Disclosure: The authors report no conflicts of interest.

Received September 26, 2005. Accepted in final form August 22, 2006.