PMC:4067558 / 37058-38400 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4067558","sourcedb":"PMC","sourceid":"4067558","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4067558","text":"We used multiple approaches to prioritize key candidate ASD-associated genes disrupted by CNVs and further identified biological relationships and common pathways shared among those genes. Our data (1) confirm excess burden of genome-wide rare genic CNVs in an independent set of ASD subjects versus control subjects; (2) further reveal an extreme degree of etiological heterogeneity (36 different genetic loci were found among 82 individuals with pathogenic CNVs); (3) confirm the contribution of de novo CNVs to the etiology of autism and highlight the contribution of inherited pathogenic imbalances (36%); (4) show an increased proportion of females among carriers of highly penetrant pathogenic CNVs, as well as among carriers of deletions affecting FMRP targets; (5) show no significant difference in the frequency of de novo CNVs between simplex and multiplex families; (6) show that both deletions and duplications involving FMRP targets and PSD genes increase ASD risk; (7) show evidence of multigene contributions to ASD; (8) show that ASD-associated deletions impair synapse function and neurodevelopmental processes; (9) implicate chromatin and transcription regulation genes in ASD in a network analysis of de novo CNVs; and (10) show that genes affected by de novo CNVs and de novo LoF SNVs converge on functional gene networks.","tracks":[]}