ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

Hum Mol Genet. 2002 Apr 15;11(8):981-91. doi: 10.1093/hmg/11.8.981.

Thierry Bienvenu ¹, Karine Poirier, Gaelle Friocourt, Nadia Bahi, Delphine Beaumont, Fabien Fauchereau, Lamia Ben Jeema, Ramzi Zemni, Marie-Claude Vinet, Fiona Francis, Philippe Couvert, Marie Gomot, Claude Moraine, Hans van Bokhoven, Vera Kalscheuer, Suzanne Frints, Josef Gecz, Kanae Ohzaki, Habiba Chaabouni, Jean-Pierre Fryns, Vincent Desportes, Cherif Beldjord, Jamel Chelly

Affiliations

Affiliation

1 Institut Cochin - CHU Cochin Port-Royal, 75014 Paris, France.

PMID: 11971879 DOI: 10.1093/hmg/11.8.981

Abstract

Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.

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