Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion

Eur J Pediatr. 2005 Mar;164(3):154-7. doi: 10.1007/s00431-004-1583-x. Epub 2004 Nov 19.

Abstract

We report a novel C-terminal MECP2 frameshift deletion (1135_1142delCCCGTG CC) in a 19-year-old woman with mental retardation and epilepsy. Preservation of language capabilities, purposeful hand use and sufficient locomotion implied an atypical variant of Rett syndrome (OMIM 312750). Occipito-frontal head circumference was large at birth (36 cm; SDS 1.7) and increased until adulthood (58.5 cm; SDS 2.3).

Conclusion: Our observation indicates that head size and head growth are of limited reliability in the diagnosis of MECP2-associated phenotypes.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomal Proteins, Non-Histone / genetics*
  • Codon, Terminator
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Exons
  • Female
  • Frameshift Mutation*
  • Head / abnormalities*
  • Humans
  • Intellectual Disability / genetics*
  • Methyl-CpG-Binding Protein 2
  • Repressor Proteins / genetics*
  • Rett Syndrome / genetics

Substances

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