Mutation screening of the ARX gene in patients with autism.Report as inadecuate

Mutation screening of the ARX gene in patients with autism. - Download this document for free, or read online. Document in PDF available to download.

* Corresponding author 1 Neurobiologie et Psychiatrie 2 Service de psychopathologie de l-enfant et de l-adolescent 3 Department of Child and Adolescent Psychiatry 4 Department of Pediatrics 5 Département de Psychiatrie 6 Saint George-s Hospital Medical School

Abstract : 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. c 2006 Wiley-Liss, Inc.

keyword : X chromosome mental retardation epilepsy

Author: Pauline Chaste - Gudrun Nygren - Henrik Anckarsäter - Maria Råstam - Mary Coleman - Marion Leboyer - Christopher Gillberg - Cat



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