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Clin Genet. 2004 Jul;66(1):39-45.

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

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  • 1Hunter Genetics, Newcastle, New South Wales, Australia.


Three families with X-linked mental retardation caused by a 24 base-pair duplication in ARX[428-451dup(24 bp)] are reported. The clinical features in these and six other published families are reviewed. In general, the clinical picture is variable. Mental retardation ranges from mild to severe. Infantile spasms (West syndrome) occurred in 12.5% and other less severe forms of seizures in 37.5%. Characteristic dystonic movements of the hands were seen in 63% and dysarthria in 54%. The focal dystonia, in association with mental retardation, may prove to be diagnostic of this mutation.

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