Methylation signatures investigations
The C3G Toronto node has also been involved in two projects to investigate methylation signatures for specific conditions. We have recently published a manuscript in BMC Medical Genomics in which we describe specific DNA methylation signatures for Nicolaides-Baraitser syndrome (NBS), a rare childhood condition that affects physical features and intellectual ability (Chater-Diehl et al., 2019). We showed that specific methylation patterns are associated with pathogenic variants of the NBS causal gene, SMARCA2, which encodes the catalytic domain of a chromatin remodeling complex. We have also identified DNA methylation signatures associated with autism spectrum disorder risk loci, which has been recently published in Clinical Epigenetics (Siu et al., 2019). We show that methylation signatures can be used to identify and distinguish individuals with specific autism-associated mutations and can help determine if specific gene variants are pathogenic or benign to improve autism diagnostics.