Researchers at The Hospital for Sick Children (SickKids) have identified specific epigenetic signatures that may help with diagnosis of two clinically overlapping genetic conditions. These signatures could also be used to identify new therapies which could improve the neurodevelopmental trajectories for individuals with these conditions. The findings are published in the May 4 online edition of the American Journal of Human Genetics.
Our study provides important clues about how embryonic development is disrupted by mutations in epigenes. These clues could lead to improved care on multiple levels; from a clinical perspective it will help with diagnosis by either confirming or ruling out the condition at an earlier stage in the child’s life.
The existing tools used in clinical labs to classify genetic changes as pathogenic (causal) or benign are less than perfect. The epigenetic signatures we have identified provide a new approach to classify genetic mutations in epigenes with a high degree of accuracy. For example; sometimes genetic sequencing will indicate a change in the DNA which suggests CHARGE syndrome, but the sequence result is insufficient to determine whether the genetic change is benign or whether it causes the syndrome. Our epigenetic signatures could be used as a novel diagnostic molecular test to help interpret the pathogenicity of the genetic variants involved in CHARGE and Kabuki syndromes.
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