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https://hdl.handle.net/2440/7340
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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 1460-2083 |
Statement of Responsibility: | 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 Humans Sex Chromosome Disorders Peptides Homeodomain Proteins Transcription Factors Pedigree Sequence Analysis, DNA Sequence Analysis, Protein Gene Expression Amino Acid Sequence Mutation Mutation, Missense Genes, Homeobox Molecular Sequence Data Adolescent Adult Middle Aged Child Child, Preschool Intellectual Disability |
Rights: | Copyright © 2002 Oxford University Press |
DOI: | 10.1093/hmg/11.8.981 |
Published version: | http://dx.doi.org/10.1093/hmg/11.8.981 |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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