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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 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.

Pubmed ID: 11971879


  • Bienvenu T
  • Poirier K
  • Friocourt G
  • Bahi N
  • Beaumont D
  • Fauchereau F
  • Ben Jeema L
  • Zemni R
  • Vinet MC
  • Francis F
  • Couvert P
  • Gomot M
  • Moraine C
  • van Bokhoven H
  • Kalscheuer V
  • Frints S
  • Gecz J
  • Ohzaki K
  • Chaabouni H
  • Fryns JP
  • Desportes V
  • Beldjord C
  • Chelly J


Human molecular genetics

Publication Data

April 15, 2002

Associated Grants


Mesh Terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Child
  • Child, Preschool
  • Chromosomes, Human, X
  • Gene Expression
  • Genes, Homeobox
  • Homeodomain Proteins
  • Humans
  • Intellectual Disability
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Mutation, Missense
  • Pedigree
  • Peptides
  • Sequence Analysis, DNA
  • Sequence Analysis, Protein
  • Sex Chromosome Disorders
  • Telencephalon
  • Transcription Factors