MeCP2 mutations: progress towards understanding and treating Rett syndrome

Genome Med. 2017 Feb 17;9(1):17. doi: 10.1186/s13073-017-0411-7.


Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 function in the brain.

Publication types

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

MeSH terms

  • Brain / metabolism
  • Female
  • Humans
  • Male
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Mutation
  • Rett Syndrome / metabolism*
  • Rett Syndrome / therapy


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