Autism Susceptibility Genes Identified by International Consortium

Autism spectrum disorders (ASDs) are caused in part by genetic changes found in less than 1% of the population.

The ASDs are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviors.

A group of multinational scientists has carried out a high-density genotyping study on 1,000 individuals with ASD and 1,300 without ASD. The findings showed that the DNA of individuals with ASDs has more copy number variants (CNVs) - rare submicroscopic insertions and deletions - disrupting genes, including genes previously reported to be associated with autism, but also other genes such as those involved in intellectual disabilities. These genes, which include SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus, primarily belong to synapse-related pathways, while others are involved in cellular proliferation, projection and motility, and intracellular signaling. The study was published by the Autism Genome Project Consortium in June 2010 in Nature.

The overlap between autism susceptibility genes, and genes previously implicated in intellectual disabilities further supports the hypothesis that at least some genetic risk factors are shared by different psychiatric developmental disabilities. Finally, identification of these biological pathways points to new avenues of scientific investigation, as well as potential targets for the development of novel treatments.

Prof. Joseph Buxbaum, Ph.D., of the Mount Sinai School of Medicine (MSSM; New York, NY, USA) said, "As we continue to uncover genetic mutations that can cause autism, we are gaining further insights that will ultimately lead to earlier diagnosis and better treatments." The combined identification of higher-penetrance rare variants and new biological pathways, including those identified in this study, may broaden the targets amenable to genetic testing and therapeutic intervention.

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