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Type: Journal article
Title: ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
Author: Bienvenu, T.
Poirier, K.
Friocourt, G.
Bahi, N.
Beaumont, D.
Fauchereau, F.
Jeema, L.
Zemni, R.
Vinet, M.
Francis, F.
Couvert, P.
Gomot, M.
Moraine, C.
van Bokhoven, H.
Kalscheuer, V.
Frints, S.
Gecz, J.
Ohzaki, K.
Chaabouni, H.
Fryns, J.
et al.
Citation: Human Molecular Genetics, 2002; 11(8):981-991
Publisher: Oxford Univ Press
Issue Date: 2002
ISSN: 0964-6906
Statement of
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
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.
Keywords: Telencephalon
Chromosomes, Human, X
Sex Chromosome Disorders
Homeodomain Proteins
Transcription Factors
Sequence Analysis, DNA
Sequence Analysis, Protein
Gene Expression
Amino Acid Sequence
Mutation, Missense
Genes, Homeobox
Molecular Sequence Data
Middle Aged
Child, Preschool
Intellectual Disability
Rights: Copyright © 2002 Oxford University Press
DOI: 10.1093/hmg/11.8.981
Published version:
Appears in Collections:Aurora harvest 5
Paediatrics publications

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