Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

Pediatric developmental syndromes present with systemic, complex, and often overlapping clinical features that are not infrequently a consequence of Mendelian inheritance of mutations in genes involved in DNA methylation, establishment of histone modifications, and chromatin remodeling (the “epigenetic machinery”). The mechanistic cross-talk between histone modification and DNA methylation suggests that these syndromes might be expected to display specific DNA methylation signatures that are a reflection of those primary errors associated with chromatin dysregulation.

Source: The American Journal of Human Genetics - January 4, 2018 Category: Genetics & Stem Cells Authors: Erfan Aref-Eshghi, David I. Rodenhiser, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Par é, Rebecca L. Hood, Dennis E. Bulman, Kristin D. Kernohan, Care4Rare Canada Consortium, Kym M. Boycott, Philippe M. Campeau, Charles Schw Tags: Article Source Type: research