Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome

@inproceedings{SimRiudalbas2015GenomeWideDM,
  title={Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome},
  author={Laia Sim{\'o}-Riudalbas and Angel D{\'i}az-Lagares and Sole Gatto and Monica Gagliardi and Ana B Crujeiras and Maria Rosaria Matarazzo and Manel Esteller and Juan Sandoval and Robert Dante},
  booktitle={PloS one},
  year={2015}
}
INTRODUCTION AND RESULTS Immunodeficiency, centromeric instability and facial anomalies syndrome (ICF) is a rare autosomal recessive disease, characterized by severe hypomethylation in pericentromeric regions of chromosomes (1, 16 and 9), marked immunodeficiency and facial anomalies. The majority of ICF patients present mutations in the DNMT3B gene, affecting the DNA methyltransferase activity of the protein. In the present study, we have used the Infinium 450K DNA methylation array to evaluate… CONTINUE READING
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