Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls

Eur J Hum Genet. 2005 Jan;13(1):124-6. doi: 10.1038/sj.ejhg.5201270.

Abstract

Mutations in MECP2 are a cause of Rett syndrome. Recently, a new isoform of MeCP2 was described, which has an alternative N-terminus, transcribed from exon 1. We screened exon 1 and the promoter region of MECP2 in 97 mutation-negative Rett syndrome cases. We found two sequence variants, but there was no evidence that they are pathogenic. Mutations in exon 1 and the promoter of MECP2 are not a common cause of Rett syndrome.

Publication types

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

MeSH terms

  • Case-Control Studies
  • Chromosomal Proteins, Non-Histone / genetics*
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Exons / genetics*
  • Female
  • Genotype
  • Humans
  • Male
  • Methyl-CpG-Binding Protein 2
  • Mutation / genetics*
  • Promoter Regions, Genetic / genetics*
  • Repressor Proteins / genetics*
  • Rett Syndrome / genetics*

Substances

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