The Intellectual Disability (ID) is characterized by below average intelligence and lack of skills in day to day activities due to alteration of nervous system function. The ID is further divided into syndromic and non-syndromic types. The genetic background of intellectual disability is heterogenous and may include chromosomal aberrations, specific gene mutations and epigenetic defects. Present study is focused on epigenetic defects, where the authors examined promoter CpG island methylation of a selected panel of genes, identified in a genome-wide methylation screen, in Cornelia de Lange syndrome and generalized ID. Methylation Specific PCR was carried out on bisulfite converted DNA to screen promoter regions of FMR1, MeCP2, NIPBL and SMC1A genes. There is high frequency of methylation of MeCP2 and NIPBL promoter than any other studied gene. These two genes may have major contribution in causing ID.
Proceedings of the National Academy of Sciences, India Section B: Biological Sciences – Springer Journals
Published: Apr 15, 2016
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