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: Overall, 4.7% of trios had at least one de novo CNV, whereas control subjects had a frequency of 1%-2%.
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: After screening 2,096 trios (of all ancestries), we found 102 rare de novo CNVs in 99 affected subjects (three of whom had two events; Table S4 ). Overall, 4.7% of trios had at least one de novo CNV, whereas control subjects had a frequency of 1%-2%. There were no significant differences between subjects from simplex families and those from multiplex families in the frequency (5% and 4.2%, respectively) or gene content (n ¼ 18.7 and 18.8, respectively) of de novo CNVs.