Journal
BRAIN & DEVELOPMENT
Volume 24, Issue 5, Pages 266-268Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/S0387-7604(02)00079-7
Keywords
aristaless related homeobox gene; ARX; dystonia; infantile spasms; seizures; X-linked mental retardation
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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. (C) 2002 Elsevier Science B.V. All rights reserved.
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