News Finding: Individuals with ASD carried more of these CNVs than individuals in the control group, and some of them were inherited while others were only present in offspring with ASD.
Paper Finding: (legend continued on next page) a higher genetic load to express ASD, and our foundational data support this general hypothesis.
News Context: The researchers reported numerous CNVs affecting genes, and found that these genes are part of similar cellular pathways involved in brain development, synapse function and chromatin regulation. Individuals with ASD carried more of these CNVs than individuals in the control group, and some of them were inherited while others were only present in offspring with ASD. By further aggregating CNVs and SNVs (the latter identified in other studies), Mount Sinai researchers discovered many additional genes and pathways involved in ASD.
Paper Context: Edges represent significant direct protein-protein interactions (as defined by a common interactor binding degree of 2) in the InWeb database. (legend continued on next page) a higher genetic load to express ASD, and our foundational data support this general hypothesis. We observed significant enrichment of both deletion and duplication events overlapping FMRP and PSD targets, indicating that altered dosage of these genes can underlie ASD susceptibility.