De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation

Hum Genet. 2014 Nov;133(11):1359-67. doi: 10.1007/s00439-014-1469-6. Epub 2014 Jul 19.

Abstract

Xq28 microduplications of MECP2 are a prominent cause of a severe syndromic form of intellectual disability (ID) in males. Females are usually unaffected through near to complete X-inactivation of the aberrant X chromosome (skewing). In rare cases, affected females have been described due to random X-inactivation. Here, we report on two female patients carrying de novo MECP2 microduplications on their fully active X chromosomes. Both patients present with ID and additional clinical features. Mono-allelic expression confirmed complete skewing of X-inactivation. Consequently, significantly enhanced MECP2 mRNA levels were observed. We hypothesize that the cause for the complete skewing is due to a more harmful mutation on the other X chromosome, thereby forcing the MECP2 duplication to become active. However, we could not unequivocally identify such a second mutation by array-CGH or exome sequencing. Our data underline that, like in males, increased MECP2 dosage in females can contribute to ID too, which should be taken into account in diagnostics.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Comparative Genomic Hybridization
  • Exome / genetics
  • Female
  • Gene Duplication
  • Gene Expression Profiling
  • Gene Expression Regulation*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Mental Retardation, X-Linked / genetics*
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Microsatellite Repeats / genetics
  • Oligonucleotide Array Sequence Analysis
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics
  • Sequence Analysis, DNA
  • X Chromosome Inactivation / genetics*

Substances

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

Supplementary concepts

  • Lubs X-linked mental retardation syndrome