Another patient with MECP2 mutation without classic Rett syndrome phenotype

Pediatr Neurol. 2005 May;32(5):355-7. doi: 10.1016/j.pediatrneurol.2004.12.012.


Rett syndrome and Angelman syndrome are two neurodevelopmental disorders characterized by partial overlapping features. Rett syndrome is frequently caused by a mutation in methyl-CpG-binding protein (MECP2) gene, localized on chromosome Xq28, whereas Angelman syndrome is frequently caused by different genetic anomalies at chromosome 15q11-q13 (deletions, uniparental disomy, imprinting center mutations, ubiquitin E3 ligase [UBE3A] gene mutations). Recently, some patients with a clinical diagnosis of Angelman syndrome were found to have a mutation in MECP2 gene. This report describes another patient with an Angelman-like phenotype and with an MECP2 mutation.

Publication types

  • Case Reports

MeSH terms

  • Angelman Syndrome / genetics*
  • Angelman Syndrome / physiopathology*
  • Child, Preschool
  • Chromosomal Proteins, Non-Histone / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Methyl-CpG-Binding Protein 2
  • Phenotype
  • Point Mutation
  • Repressor Proteins / genetics*
  • Rett Syndrome / genetics*
  • Rett Syndrome / physiopathology*


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