Neurology
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Published online before print November 2, 2006, doi:10.1212/01.wnl.0000247833.29314.5b)
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Received September 26, 2005
Accepted August 22, 2006

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.


* To whom correspondence should be addressed. E-mail: kszczaluba{at}imid.med.pl.

Abstract-- 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.






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