A novel familial MECP2 mutation in a young boy: clinical and molecular findings

Neurology. 2006 Sep 12;67(5):867-8. doi: 10.1212/01.wnl.0000233990.87889.15.

Abstract

We describe the clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate mental retardation with autistic features and epilepsy. His mother is heterozygous for the same mutation.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Brain / physiopathology
  • Child
  • Chromosomes, Human, X
  • DNA Mutational Analysis / methods
  • Electroencephalography / methods
  • Electromyography
  • Family Health
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Karyotyping / methods
  • Magnetic Resonance Imaging / methods
  • Male
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Mutation*
  • Neuropsychological Tests

Substances

  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2