A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

Nat Genet. 2004 Apr;36(4):339-41. doi: 10.1038/ng1327. Epub 2004 Mar 21.


Rett syndrome is caused by mutations in the gene MECP2 in approximately 80% of affected individuals. We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosomal Proteins, Non-Histone*
  • DNA Primers
  • DNA-Binding Proteins / genetics*
  • Humans
  • Methyl-CpG-Binding Protein 2
  • Molecular Sequence Data
  • Open Reading Frames
  • Protein Isoforms / genetics*
  • Repressor Proteins*
  • Rett Syndrome / genetics*


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

Associated data

  • GENBANK/AY541280