MECP2 gene mutation analysis in Chinese patients with Rett syndrome

Eur J Hum Genet. 2002 Aug;10(8):484-6. doi: 10.1038/sj.ejhg.5200827.


Rett syndrome (RTT) is a progressive neurodevelopmental disorder that affects almost exclusively girls. Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) have been found to be a cause. In order to study the spectrum of MECP2 mutations in Chinese patients, we employed PCR and sequencing of the coding region of MECP2 gene in 31 Chinese cases of classical sporadic RTT. Mutations in MECP2 were found in about 55%. Twelve different mutations in exon 3 were identified in 17 of these 31 patients; two of these are novel. A novel missense variant was detected in the C-terminal region in a patient and her father who was normal. In addition, there was a single nucleotide variant in the 3'UTR.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Asian People
  • Base Sequence
  • China
  • Chromosomal Proteins, Non-Histone*
  • CpG Islands / genetics
  • DNA-Binding Proteins / genetics*
  • Exons*
  • Female
  • Frameshift Mutation
  • Humans
  • Male
  • Methyl-CpG-Binding Protein 2
  • Mutation*
  • Pedigree
  • Repressor Proteins / genetics
  • Rett Syndrome / genetics*
  • Sex Characteristics


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

Associated data

  • OMIM/312750