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Autism is a neurodevelopmental disorder characterized by impaired social reciprocity, impaired communication and stereotypical behaviors. Despite strong evidence for a genetic basis, few susceptibility genes have been identified. Here, we describe the positional cloning of  SCAMP5 ,  CLIC4  and  PPCDC  as candidate genes for autism, starting from a person with idiopathic, sporadic autism carrying a  de novo  chromosomal translocation. One of these genes,  SCAMP5  is silenced on the derivative chromosome, and encodes a brain-enriched protein involved in membrane trafficking, similar to the previously identified candidate genes  NBEA  and  AMISYN . Gene silencing of  Nbea ,  Amisyn  and  Scamp5  in mouse β-TC3 cells resulted in a 2-fold increase in stimulated secretion of large dense-core vesicles (LDCVs), while overexpression suppressed secretion. Moreover, ultrastructural analysis of blood platelets from the patients with haploinsufficieny of one of the three candidate genes, showed morphological abnormalities of dense-core granules, which closely resemble LDCVs. Taken together, this study shows that in three independent patients with autism three different negative regulators of LDCV secretion are affected, respectively, suggesting that in at least a subgroup of patients the regulation of neuronal vesicle trafficking may be involved in the pathogenesis of autism.

SCAMP5 , NBEA and AMISYN : three candidate genes for autism involved in secretion of large dense-core vesicles