Journal Article

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

Thierry Bienvenu, 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 and Jamel Chelly

in Human Molecular Genetics

Volume 11, issue 8, pages 981-991
Published in print April 2002 | ISSN: 0964-6906
Published online April 2002 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/11.8.981
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

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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.

Journal Article.  7062 words.  Illustrated.

Subjects: Genetics and Genomics

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