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- Title
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
- Authors
Bienvenu, Thierry; Poirier, Karine; Friocourt, Gaelle; Bahi, Nadia; Beaumont, Delphine; Fauchereau, Fabien; Ben Jeema, Lamia; Zemni, Ramzi; Vinet, Marie-Claude; Francis, Fiona; Couvert, Philippe; Gomot, Marie; Moraine, Claude; van Bokhoven, Hans; Kalscheuer, Vera; Frints, Suzanne; Gecz, Josef; Ohzaki, Kanae; Chaabouni, Habiba; Fryns, Jean-Pierre; Desportes, Vincent; Beldjord, Cherif; Chelly, Jamel
- 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.
- Publication
Human molecular genetics, 2002, Vol 11, Issue 8, p981
- ISSN
0964-6906
- Publication type
Journal Article
- DOI
10.1093/hmg/11.8.981