MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

J Med Genet. 2001 Mar;38(3):171-4. doi: 10.1136/jmg.38.3.171.


To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78 patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3A locus. MECP2 missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutations (803 delG) were identified in 6/78 patients including 4/6 female cases consistent with RTT, one female case with progressive encephalopathy of neonatal onset, and one isolated male case with non-fatal, non-progressive encephalopathy of neonatal onset. This study shows that MECP2 mutations can account for a broad spectrum of clinical presentations and raises the difficult issue of the screening of the MECP2 gene in severe encephalopathy in both males and females.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Angelman Syndrome / genetics*
  • Angelman Syndrome / pathology
  • Base Sequence
  • Brain Diseases / genetics*
  • Brain Diseases / pathology
  • Child
  • Child, Preschool
  • Chromosomal Proteins, Non-Histone*
  • DNA / chemistry
  • DNA / genetics
  • DNA-Binding Proteins / genetics*
  • Family Health
  • Female
  • Humans
  • Male
  • Methyl-CpG-Binding Protein 2
  • Mutation
  • Pedigree
  • Repressor Proteins*
  • Sequence Analysis, DNA


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