Abstract
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.
Keywords
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Article info
Publication history
Accepted:
August 10,
2004
Received:
July 6,
2004
Identification
Copyright
© 2004 Published by Elsevier Inc.
