title: ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
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.
authors.affiliation: Institut Cochin - CHU Cochin Port-Royal, 75014 Paris, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Bienvenu
authors.forename: Karine
authors.initials: K
authors.lastname: Poirier
authors.forename: Gaelle
authors.initials: G
authors.lastname: Friocourt
authors.forename: Nadia
authors.initials: N
authors.lastname: Bahi
authors.forename: Delphine
authors.initials: D
authors.lastname: Beaumont
authors.forename: Fabien
authors.initials: F
authors.lastname: Fauchereau
authors.forename: Lamia
authors.initials: L
authors.lastname: Ben Jeema
authors.forename: Ramzi
authors.initials: R
authors.lastname: Zemni
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Vinet
authors.forename: Fiona
authors.initials: F
authors.lastname: Francis
authors.forename: Philippe
authors.initials: P
authors.lastname: Couvert
authors.forename: Marie
authors.initials: M
authors.lastname: Gomot
authors.forename: Claude
authors.initials: C
authors.lastname: Moraine
authors.forename: Hans
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: Vera
authors.initials: V
authors.lastname: Kalscheuer
authors.forename: Suzanne
authors.initials: S
authors.lastname: Frints
authors.forename: Josef
authors.initials: J
authors.lastname: Gecz
authors.forename: Kanae
authors.initials: K
authors.lastname: Ohzaki
authors.forename: Habiba
authors.initials: H
authors.lastname: Chaabouni
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Vincent
authors.initials: V
authors.lastname: Desportes
authors.forename: Cherif
authors.initials: C
authors.lastname: Beldjord
authors.forename: Jamel
authors.initials: J
authors.lastname: Chelly
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D015870:Gene Expression; D005801:Genes, Homeobox; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D010455:Peptides; D017422:Sequence Analysis, DNA; D020539:Sequence Analysis, Protein; D025064:Sex Chromosome Disorders; D013687:Telencephalon / Q000378:metabolism*; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D010455:Peptides; D014157:Transcription Factors; C019529:polyalanine