Guidelines for reporting clinical features in cases with MECP2 mutations

Brain Dev. 2001 Jul;23(4):208-11. doi: 10.1016/s0387-7604(01)00193-0.


An international group recommends that papers relating phenotypes to genotypes involving mutations in the X chromosome gene MECP2 should provide a minimum data set reporting the range of disturbances frequently encountered in Rett Syndrome. A simple scoring system is suggested which will facilitate comparison among the various clinical profiles. Features are described which should prompt screening for MECP2 mutations.

Publication types

  • Guideline
  • Practice Guideline

MeSH terms

  • Chromosomal Proteins, Non-Histone*
  • DNA-Binding Proteins / genetics*
  • Dosage Compensation, Genetic*
  • Female
  • Humans
  • Male
  • Methyl-CpG-Binding Protein 2
  • Mutation / genetics*
  • Phenotype
  • 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