Rett Syndrome: A Prototypical Neurodevelopmental Disorder

  title={Rett Syndrome: A Prototypical Neurodevelopmental Disorder},
  author={J. Neul and H. Zoghbi},
  journal={The Neuroscientist},
  pages={118 - 128}
  • J. Neul, H. Zoghbi
  • Published 2004
  • Biology, Medicine
  • The Neuroscientist
  • Rett syndrome, one of the leading causes of mental retardation and developmental regression in girls, is the first pervasive developmental disorder with a known genetic cause. The majority of cases of sporadic Rett syndrome are caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). MeCP2 binds methylated DNA and likely regulates gene expression and chromatin structure. Genotype/phenotype analysis revealed that the phenotypic spectrum of MECP2 mutations in humans is… CONTINUE READING
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