title: 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.
authors.affiliation: INSERM U513, Université Paris XII, Créteil, France.
authors.forename: Pauline
authors.initials: P
authors.lastname: Chaste
authors.forename: Gudrun
authors.initials: G
authors.lastname: Nygren
authors.forename: Henrik
authors.initials: H
authors.lastname: Anckarsäter
authors.forename: Maria
authors.initials: M
authors.lastname: Råstam
authors.forename: Mary
authors.initials: M
authors.lastname: Coleman
authors.forename: Marion
authors.initials: M
authors.lastname: Leboyer
authors.forename: Christopher
authors.initials: C
authors.lastname: Gillberg
authors.forename: Catalina
authors.initials: C
authors.lastname: Betancur
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors