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Human Molecular Genetics, 2002, Vol. 11, No. 8 981-991
© 2002 Oxford University Press

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

Thierry Bienvenu1, Karine Poirier1, Gaelle Friocourt1, Nadia Bahi1, Delphine Beaumont1, Fabien Fauchereau1, Lamia Ben Jeema2, Ramzi Zemni1, Marie-Claude Vinet1, Fiona Francis1, Philippe Couvert1, Marie Gomot3, Claude Moraine3, Hans van Bokhoven4, Vera Kalscheuer5, Suzanne Frints6, Josef Gecz7, Kanae Ohzaki8, Habiba Chaabouni2, Jean-Pierre Fryns6, Vincent Desportes1, Cherif Beldjord1 and Jamel Chelly1,*

1Institut Cochin – CHU Cochin Port-Royal, 75014 Paris, France 2Service des Maladies congenitales et héréditaires, Hôpital Charles Nicolle, Tunis, Tunisie 3Service de Génétique, CHU Bretonneau, Tours, France 4Department of Human Genetics, University Hospital, Nijmegen, The Netherlands 5Max Plank Institut for Molekulare Genetik, Berlin, Germany 6Center for Human Genetics, Clinical Genetics Unit, Leuven, Belgium 7DCMG-Women's and children hospital, North Adelaide, SA5006, Australia and 8NIN-Division of Biochemistry and Cellular Biology, Ogawahigashi, Kodaira, Tokyo, Japan

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.

* To whom correspondence should be addressed at: Laboratoire de Génétique et Physiopathologie des Retards Mentaux, Institut Cochin, CHU Cochin Port Royal, 24 Rue du Fg Saint Jacques, 75014 Paris, France. Tel: +33 1 44 41 24 81; Fax: +33 1 44 41 24 21; Email: chelly{at}cochin.inserm.fr


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