Article
Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome.
PloS one - 1 Jan 2015
Simo-Riudalbas L, Diaz-Lagares A, Gatto S, Gagliardi M, Crujeiras A B, Matarazzo M R, Esteller M, Sandoval J
Abstract excerpt
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...
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