Mutation screening of the ARX gene in patients with autism
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1139202
- author
- Chaste, Pauline ; Nygren, Gudrun ; Anckarsäter, Henrik LU ; Råstam, Maria LU ; Coleman, Mary ; Leboyer, Marion ; Gillberg, Christopher and Betancur, Catalina
- organization
- publishing date
- 2007
- 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
- 2016-04-01 12:16:37
- date last changed
- 2022-02-26 04:55:16
@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}}, doi = {{10.1002/ajmg.b.30440}}, volume = {{144}}, year = {{2007}}, }