MLID imprinting disorders

Genomic imprinting is the parent-of-origin-specific allelic transcriptional silencing observed in mammals, which is governed by DNA methylation established in the gametes and maintained throughout the development. The frequency and extent of epimutations associated with the nine reported imprinting syndromes varies because it is evident that aberrant preimplantation maintenance of imprinted differentially methylated regions (DMRs) may affect multiple loci. Using a custom Illumina GoldenGate array targeting 27 imprinted DMRs, we profiled allelic methylation in 8 imprinting defect patients. DNA samples extracted from peripheral blood were subjected to methylation profile analysis using a custom Illumina Veracode GoldenGate Methylation array. We include 15 patients and 28 individuals as control samples, ages between 1-35 years.