Molecular-clinical spectrum of the ATR-X syndrome

Am J Med Genet. Fall 2000;97(3):204-12. doi: 10.1002/1096-8628(200023)97:3<204::AID-AJMG1038>3.0.CO;2-X.

Abstract

Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/mental retardation (ATR-X) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, X-linked mental retardation with spastic paraplegia]. An attempt is made in this article to review the clinical spectrum associated with ATRX mutations and to analyse the evidence for any genotype/phenotype correlation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology*
  • DNA Helicases*
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Face / abnormalities
  • Genetic Linkage*
  • Genotype
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology*
  • Musculoskeletal Abnormalities / genetics
  • Musculoskeletal Abnormalities / physiopathology
  • Nuclear Proteins*
  • Phenotype
  • Syndrome
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • Urogenital Abnormalities / genetics
  • Urogenital Abnormalities / physiopathology
  • X Chromosome / genetics*
  • X-linked Nuclear Protein

Substances

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