Mutation analysis of methyl-CpG binding protein family genes in autistic patients

Brain Dev. 2005 Aug;27(5):321-5. doi: 10.1016/j.braindev.2004.08.003.


Methyl-CpG binding protein 2 gene (MECP2), the gene implicated in Rett syndrome, was also reported to be involved in mental retardation and autism. MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a nuclear protein family sharing the methyl-CpG binding domain (MBD) and are related to transcriptional repression. In 65 Japanese autistic patients, all the exons of each gene were screened for mutations by DHPLC, and the results were confirmed by direct sequencing. An R269C mutation that resulted in the addition of cysteine near a cysteine rich region was found in the MBD1 gene in one patient. This mutation was also detected in the patient's father with some phenotypes of autism and his normal sister, but not in 151 controls. Two repeat length polymorphisms, (GGGGCC)2 to 3 and (GGC)4 to 5, were detected in MBD2, and several polymorphisms were detected in each gene. Although our findings could not confirm that the genes of this family are responsible for the etiology in the majority of autistic patients, the R269C mutation in the MBD1 gene may relate to autism. The potential association of the high-polymorphic gene variants with autism needs to be studied further. Furthermore, these polymorphisms are useful for linkage analysis.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Autistic Disorder / genetics*
  • Base Sequence
  • Child
  • Child, Preschool
  • CpG Islands / genetics
  • DNA Mutational Analysis
  • DNA Primers
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Male
  • Mice
  • Molecular Sequence Data
  • Sequence Homology


  • DNA Primers
  • DNA-Binding Proteins

Associated data

  • OMIM/209850