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Mutation screening of the ARX gene in patients with autism

Chaste, Pauline; Nygren, Gudrun; Anckarsäter, Henrik LU ; Råstam, Maria LU ; Coleman, Mary; Leboyer, Marion; Gillberg, Christopher and Betancur, Catalina (2007) In American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144(2). p.228-230
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
volume
144
issue
2
pages
228 - 230
publisher
International Society of Psychiatric Genetics
external identifiers
  • pmid:17044103
  • scopus:34047249386
ISSN
1552-4841
DOI
10.1002/ajmg.b.30440
language
English
LU publication?
yes
id
f9840d46-e1eb-4f95-9a8f-2965ac3a943f (old id 1139202)
date added to LUP
2008-08-19 11:32:42
date last changed
2017-01-01 05:00:05
@article{f9840d46-e1eb-4f95-9a8f-2965ac3a943f,
  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.},
  author       = {Chaste, Pauline and Nygren, Gudrun and Anckarsäter, Henrik and Råstam, Maria and Coleman, Mary and Leboyer, Marion and Gillberg, Christopher and Betancur, Catalina},
  issn         = {1552-4841},
  language     = {eng},
  number       = {2},
  pages        = {228--230},
  publisher    = {International Society of Psychiatric Genetics},
  series       = {American Journal of Medical Genetics Part B: Neuropsychiatric Genetics},
  title        = {Mutation screening of the ARX gene in patients with autism},
  url          = {http://dx.doi.org/10.1002/ajmg.b.30440},
  volume       = {144},
  year         = {2007},
}