Mutation analysis of methyl-CpG binding protein family genes in autistic patients
H Li, T Yamagata, M Mori, A Yasuhara… - Brain and Development, 2005 - Elsevier
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 …
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 …
