CNV-analysis locates ASD’s pathogenesis in the cerebellar vermis

We investigated neurodevelopmental dysfunctions in autism spectrum disorder (ASD) by an integrative analysis including the three largest genome-wide studies on associations between copy number aberrations (CNA) and ASD, the BioGPS tissue atlas, the Allen brain atlas, and in situ hybridization histochemistry data from the developing mouse brain. In contrast to the original association studies, we considered "ASD candidate genes" each of which is the only CNA-impaired gene in an ASD case, therefore, presumably causing ASD. For extracting ASD candidate genes, we developed an analysis pipeline for rare and small CNAs. Rare CNAs are supposed to be more disease-specific, because CNAs that cause ASD with high probability are assumed to be de novo and quickly vanish in the population due to their low reproductive fitness. Small CNAs affect only few genes and, therefore, are very specific concerning the genes they are impairing.