Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements

Eur J Hum Genet. 2004 Aug;12(8):682-5. doi: 10.1038/sj.ejhg.5201198.

Abstract

Autism and Rett syndrome, a severe neurological disorder with autistic behavior, are classified as separate disorders on clinical and etiological ground. Rett syndrome is a monogenic X-linked dominant condition due to de novo mutations in the MECP2 gene, whereas autism is a neurodevelopmental and behavioral disorder with complex genetic basis. Maternally inherited duplications on 15q11-q13 are found in a fraction of autistic children suggesting that an abnormal dosage of gene(s) within this region might cause susceptibility to autism. Now we show that three Rett patients are carriers of both a MECP2 mutation and a 15q11-q13 rearrangement, suggesting that there might be a relationship between autism-related genes and the MECP2 gene.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomal Proteins, Non-Histone / genetics*
  • Chromosomes, Human, Pair 15 / genetics*
  • DNA Mutational Analysis
  • DNA Primers
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Rearrangement / genetics*
  • Humans
  • Methyl-CpG-Binding Protein 2
  • Microsatellite Repeats / genetics
  • Mutation / genetics*
  • Pedigree
  • Phenotype*
  • Physical Chromosome Mapping
  • Repressor Proteins / genetics*
  • Rett Syndrome / genetics*

Substances

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