Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients

Despite advances in the characterisation of mutations in the MECP2-coding region, a small proportion of classic RTT cases remain without recognisable mutations. To identify previously unknown mutations, a quantitative assay was established, providing estimates of MECP2_e1 and MECP2_e2 expression lev...

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Bibliographic Details
Published in:Journal of medical genetics 2007-02, Vol.44 (2), p.e56-e56
Main Authors: Petel-Galil, Y, Ben-Zeev, B, Greenbaum, I, Vecsler, M, Goldman, B, Lohi, H, Minassian, B A, Gak, E
Format: Article
Language:English
Subjects:
Chromosomes, Human, X
Cohort Studies
Conserved Sequence
DNA - genetics
DNA - isolation & purification
Female
Gene Expression Regulation
Humans
Israel
Male
Methyl-CpG-Binding Protein 2 - genetics
Mutation, Missense
Polymorphism, Single Nucleotide
Protein Isoforms - genetics
Rett Syndrome - genetics
RNA - genetics
RNA - isolation & purification
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Summary:Despite advances in the characterisation of mutations in the MECP2-coding region, a small proportion of classic RTT cases remain without recognisable mutations. To identify previously unknown mutations, a quantitative assay was established, providing estimates of MECP2_e1 and MECP2_e2 expression levels in peripheral blood. A systematic analysis of an Israeli cohort of 82 patients with classic and atypical RTT is presented, including sequence analysis of the MECP2-coding region, MLPA, XCI and quantitative expression assays. A novel mis-sense mutation at ca 453C-->T (pD151E), resulting in a change of a conserved residue at the methyl-binding domain, and a rare GT deletion of intron 1 donor splice site are reported. It is shown that various MECP2 mutations had distinct effects on MECP2 expression levels in peripheral blood. The most significant (p
ISSN:1468-6244