Autism Research Today is a free monthly online journal that collates and summarizes the latest research about Autism, including details on symptoms, diagnosis, treatment, causes, effects.

Mutation screening of the ARX gene in patients with autism.

Chaste P, Nygren G, Anckarsäter H, Råstam M, Coleman M, Leboyer M, Gillberg C, Betancur C

INSERM U513, Université Paris XII, Créteil, France.

Mutations in the Aristaless related homeobox (ARX) gene are associated with a broad spectrum of disorders, including nonsyndromic X-linked mental retardation, sometimes associated with epilepsy, as well as syndromic forms with brain abnormalities and abnormal genitalia. Furthermore, ARX mutations have been described in a few patients with autism or autistic features. In this study, we screened the ARX gene in 226 male patients with autism spectrum disorders and mental retardation; 42 of the patients had epilepsy. The mutation analysis was performed by direct sequencing of all exons and flanking regions. No ARX mutations were identified in any of the patients tested. These findings indicate that mutations in the ARX gene are very rare in autism.

Published 1 March 2007 in Am J Med Genet B Neuropsychiatr Genet, 144(2): 228-30.
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