News Finding: "We hope that these new findings will help group individuals with ASD based upon their genetic causes and lead to earlier diagnosis, and smarter, more focused therapies and interventions for autism spectrum disorders," said first author Dalila Pinto, PhD, Assistant Professor of Psychiatry, and Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai.
Paper Finding: Taken together, our results suggest that rare variants affecting ASD risk in the population collectively encompass hundreds of genes.
News Context: 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. "We hope that these new findings will help group individuals with ASD based upon their genetic causes and lead to earlier diagnosis, and smarter, more focused therapies and interventions for autism spectrum disorders," said first author Dalila Pinto, PhD, Assistant Professor of Psychiatry, and Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai.
Paper Context: Whereas the majority of the 97 genes in the CNV or SNV network (not including the genes already known to be involved in ASD) most likely act via haploinsufficiency, a few are affected by duplications. Our findings implicate many ASD candidate genes altered by de novo, inherited, or X-linked CNVs (e.g., SETD5, miR137, and HDAC9 [MIM 606543]; Supplemental Data section ''Highlighted Genes'') or altered by both de novo CNVs and LoF SNVs (e.g., RIMS1, TRIP12, and DLL1; Figures 4B and 5 ). Taken together, our results suggest that rare variants affecting ASD risk in the population collectively encompass hundreds of genes.