Autism spectrum disorders (ASDs) Psynaptic Genes Targeted Sequencing

Autism spectrum disorders (ASDs) are characterized by deficits in three core behavioral domains: reciprocal social interactions, communication, and restricted interests and/or repetitive behaviors. It remains a challenge to associate these genes with specific core behavioral deficits. In multiplex autism families, affected sibs often show significant differences in severity of individual core phenotypes. We hypothesize that a higher mutation burden contributes to a larger difference in the severity of specific core phenotypes between affected sibs. We tested this hypothesis on social behavioral deficits in autism. We sequenced synaptome genes (n=1,886) in affected male sib-pairs (n=274) in families from the Autism Genetics Research Exchange (AGRE) and identified rare (MAF≤1%) and predicted functional variants.