Elsevier

Brain and Development

Volume 24, Issue 5, August 2002, Pages 266-268
Brain and Development

Communication
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

https://doi.org/10.1016/S0387-7604(02)00079-7Get rights and content

Abstract

Clinical data from 50 mentally retarded (MR) males in nine X-linked MR families, syndromic and non-specific, with mutations (duplication, expansion, missense, and deletion mutations) in the Aristaless related homeobox gene, ARX, were analysed. Seizures were observed with all mutations and occurred in 29 patients, including one family with a novel myoclonic epilepsy syndrome associated with the missense mutation. Seventeen patients had infantile spasms. Other phenotypes included mild to moderate MR alone, or with combinations of dystonia, ataxia or autism. These data suggest that mutations in the ARX gene are important causes of MR, often associated with diverse neurological manifestations.

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Acknowledgements

This work was supported by The Unger-Vetlesen Medical Fund, Jersey, The Research Council of Norway and The National Health and Medical Research Council of Australia. We thank Dr Eric Haan, Department of Clinical Genetics, Women's and Children's Hospital, Adelaide, South Australia, for review of the manuscript.

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