Partial duplications of the ATRX gene cause the ATR-X syndrome

Eur J Hum Genet. 2007 Oct;15(10):1094-7. doi: 10.1038/sj.ejhg.5201878. Epub 2007 Jun 20.

Abstract

ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.

Publication types

  • Case Reports

MeSH terms

  • DNA Helicases / genetics*
  • DNA Mutational Analysis
  • Gene Duplication*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mental Retardation, X-Linked / genetics*
  • Mental Retardation, X-Linked / metabolism
  • Mutation
  • Nuclear Proteins / genetics*
  • Phenotype
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Syndrome
  • X-linked Nuclear Protein
  • alpha-Thalassemia / genetics*
  • alpha-Thalassemia / metabolism

Substances

  • Nuclear Proteins
  • RNA, Messenger
  • DNA Helicases
  • ATRX protein, human
  • X-linked Nuclear Protein