A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism

J Pediatr. 2009 Jul;155(1):140-3. doi: 10.1016/j.jpeds.2009.01.035.

Abstract

Methly-CpG-binding protein 2 (MECP2) mutations cause Rett syndrome in females. Here we report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene. In addition he has facial dysmorphisms previously not described in these patients.

Publication types

  • Case Reports

MeSH terms

  • Craniofacial Abnormalities / genetics*
  • Developmental Disabilities / genetics
  • Frameshift Mutation*
  • Humans
  • Infant
  • Male
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Microcephaly / genetics*
  • Muscle Hypotonia / genetics
  • Polysomnography
  • Rett Syndrome / genetics*

Substances

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