Rett syndrome: new clinical and molecular insights

Eur J Hum Genet. 2006 Aug;14(8):896-903. doi: 10.1038/sj.ejhg.5201580.


In this review, we give a clinical overview of Rett syndrome (RTT), and provide a framework for clinical and molecular approaches to the diagnosis of this severe neurodevelopmental disorder. We also discuss issues that need to be considered in the management of RTT patients, and raise some of the challenges associated with genetic counselling.

Publication types

  • Review

MeSH terms

  • Amino Acid Sequence
  • Female
  • Genetic Counseling
  • Humans
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Methyl-CpG-Binding Protein 2 / metabolism
  • Models, Biological
  • Molecular Sequence Data
  • Mutation
  • Rett Syndrome / diagnosis*
  • Rett Syndrome / genetics
  • Rett Syndrome / therapy*
  • Sequence Homology, Amino Acid


  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2