Skip to Main content Skip to Navigation
Journal articles

Mutation screening of the ARX gene in patients with autism.

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.
Complete list of metadata

Cited literature [29 references]  Display  Hide  Download
Contributor : Catalina Betancur <>
Submitted on : Friday, September 4, 2009 - 8:49:16 AM
Last modification on : Thursday, December 10, 2020 - 10:52:43 AM
Long-term archiving on: : Tuesday, April 6, 2010 - 6:06:59 PM


Files produced by the author(s)



Pauline Chaste, Gudrun Nygren, Henrik Anckarsäter, Maria Råstam, Mary Coleman, et al.. Mutation screening of the ARX gene in patients with autism.. Am J Med Genet B Neuropsychiatr Genet, 2007, 144 (2), pp.228-30. ⟨10.1002/ajmg.b.30440⟩. ⟨inserm-00109595⟩



Record views


Files downloads