Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2007 Mar 5;144B(2):228-30.
doi: 10.1002/ajmg.b.30440.

Mutation screening of the ARX gene in patients with autism

Pauline Chaste  1 , Gudrun Nygren, Henrik Anckarsäter, Maria Råstam, Mary Coleman, Marion Leboyer, Christopher Gillberg, Catalina Betancur
Affiliations
Free PMC article

Mutation screening of the ARX gene in patients with autism

Pauline Chaste et al. Am J Med Genet B Neuropsychiatr Genet. .
Free PMC article

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.

PubMed Disclaimer

References

    1. Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet. 2002;11:981–991. - PubMed
    1. Carney RM, Wolpert CM, Ravan SA, Shahbazian M, Ashley-Koch A, Cuccaro ML, Vance JM, Pericak-Vance MA. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol. 2003;28:205–211. - PubMed
    1. Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gecz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet. 2005;13:1113–1120. - PubMed
    1. Friocourt G, Poirier K, Rakic S, Parnavelas JG, Chelly J. The role of ARX in cortical development. Eur J Neurosci. 2006;23:869–876. - PubMed
    1. Gillberg C, Coleman M. The Biology of the Autistic Syndromes. London, UK: Cambridge University Press; 2000.

Publication types