[Clinical and molecular genetic findings in four girls with Rett syndrome]

Klin Padiatr. 2002 Sep-Oct;214(5):291-4. doi: 10.1055/s-2002-34016.
[Article in German]


We report on four mental retarded girls with typical clinical signs of Rett syndrome. Rett syndrome is an X-linked neurodevelopment disorder which develops after a period of normal development at the age of 6 to 18 months, affecting 1/10 000 - 15 000 girls. Recently, the MeCP2-gene encoding the methyl-CpG-binding protein 2 has been shown to be mutated in 80 percent of girls with Rett Syndrome, studied so far. In our patients with Rett syndrome two common mutations of the MeCP2-gene, R168X (n=2) and T158M were found. In the 4th patient a novel "missense" mutation R294G was identified.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Child
  • Child, Preschool
  • Chromosomal Proteins, Non-Histone*
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics
  • Exons
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Methyl-CpG-Binding Protein 2
  • Mutation, Missense / genetics
  • Neurologic Examination
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Repressor Proteins*
  • Rett Syndrome / diagnosis*
  • Rett Syndrome / genetics


  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2
  • Repressor Proteins