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Mutation screening of the ARX gene in patients with autism.

Journal article
Authors Pauline Chaste
Gudrun Nygren
Henrik Anckarsäter
Maria Råstam
Mary Coleman
Marion Leboyer
Christopher Gillberg
Catalina Betancur
Published in American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Volume 144B
Issue 2
Pages 228-230
ISSN 1552-4841
Publication year 2007
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 228-230
Language en
Links dx.doi.org/10.1002/ajmg.b.30440
Keywords Autistic Disorder, Genetics, DNA Mutational Analysis, Female, Genetic Testing, Homeodomain Proteins, Genetics, Humans, Male, Mutation, Genetics, Transcription Factors, Genetics
Subject categories Psychiatry

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.

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