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 #
Issue Date: Apr-2002
Series Title: Human Molecular Genetics vol:11 issue:8 pages:981-91
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.
ISSN: 0964-6906
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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