Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes

Copy Number Variants (CNVs) play an important role in susceptibility to ASD, often mediated by the deletion or duplication of genes involved in synaptic structure and function. Increasing evidence suggests a central role for defects in synaptic structure and function in the pathogenesis of non-syndromic ASD. In this study we tested the hypothesis of an enrichment in CNVs encompassing synaptic transmission genes in ASD This work was supported by the fellowships SFRH/BD/79081/2011 to BO, SFRH/BPD/74739/2010 to ICC and SFRH/BPD/64281/2009 to CC from Fundação para a Ciência e a Tecnologia (FCT; Portugal).