News Finding: 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 Finding: Examples of ASD candidate genes identified by small de novo CNVs include SETD5, DTNA (MIM 6012), and LSAMP (MIM 6032) (Supplemental Data section ''Highlighted Genes,'' Figures S9, S10, and S14).
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: We replicated previous observations, such as a de novo deletion intersecting PTCHD1AS in a male (adding to the evidence that both PTCHD1 and PTCHD1AS contribute to ASD risk 14 ) and de novo events involving the miRNA miR137 (MIM 614304) in 1p.2-p.3 in two subjects. Examples of ASD candidate genes identified by small de novo CNVs include SETD5, DTNA (MIM 6012), and LSAMP (MIM 6032) (Supplemental Data section ''Highlighted Genes,'' Figures S9, S10, and S14). Among the affected subjects with pathogenic CNVs, 63% (38/60) carried de novo events ( Figure 1C ), including two subjects with two pathogenic events each.