A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy

Ann Neurol. 2000 Jan;47(1):117-21.


Mutations in the X-encoded gene ATRX are known to give rise to profound syndromal mental retardation (MR). Here, we describe a pedigree, including 4 affected family members with a 324C-->T nonsense mutation in the ATRX gene. Although 2 patients have moderate to profound MR and the typical facial features of ATR-X syndrome, the other 2 patients presented with mild MR and epilepsy but without the characteristic facial dysmorphism. Mutations in the ATRX gene should be considered as a cause of mild MR in male patients lacking specific diagnostic features.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • DNA Helicases*
  • DNA-Binding Proteins / genetics*
  • Epilepsy / genetics*
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / psychology
  • Intelligence
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Neuropsychological Tests
  • Nuclear Proteins*
  • Pedigree
  • Transcription Factors / genetics*
  • X-linked Nuclear Protein


  • DNA-Binding Proteins
  • Nuclear Proteins
  • Transcription Factors
  • DNA Helicases
  • ATRX protein, human
  • X-linked Nuclear Protein