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

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...

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Veröffentlicht in:Human molecular genetics 2002-04, Vol.11 (8), p.981-991
Hauptverfasser: 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
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container_title Human molecular genetics
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creator 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
description 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.
doi_str_mv 10.1093/hmg/11.8.981
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Mol. Genet</addtitle><date>2002-04-15</date><risdate>2002</risdate><volume>11</volume><issue>8</issue><spage>981</spage><epage>991</epage><pages>981-991</pages><issn>0964-6906</issn><issn>1460-2083</issn><eissn>1460-2083</eissn><coden>HNGEE5</coden><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. 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source Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
subjects Adolescent
Adult
Amino Acid Sequence
Biological and medical sciences
Child
Child, Preschool
Chromosomes, Human, X
Classical genetics, quantitative genetics, hybrids
Fundamental and applied biological sciences. Psychology
Gene Expression
Genes, Homeobox
Genetics of eukaryotes. Biological and molecular evolution
Homeodomain Proteins - genetics
Homeodomain Proteins - metabolism
Human
Humans
Intellectual Disability - genetics
Life Sciences
Medical genetics
Medical sciences
Mental and behavioral disorders
Middle Aged
Molecular Sequence Data
Mutation
Mutation, Missense
Neurons and Cognition
Pedigree
Peptides
Sequence Analysis, DNA
Sequence Analysis, Protein
Sex Chromosome Disorders
Telencephalon - metabolism
Transcription Factors - genetics
Transcription Factors - metabolism
title ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
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