Researchers identify new autism susceptibility genes

New research supports the idea that genes play an important role in the development of autism, and this research may yield earlier diagnosis and better treatment for the condition, according to a study recently published online.

Researchers from the Autism Genome Project said SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD played a role in the synapse-related pathways, cellular proliferation, projection, motility and intracellular signaling with patients with autism.

The researchers used genotyping microarray techniques to study data collected from 996 people with autism spectrum disorder and 1,287 matched controls. The researchers noted that the DNA of individuals affected with autism spectrum disorder were about 20% more likely to have “copy number variants” that are responsible for disrupting the genes involved with intellectual disabilities.

Although each of the variants may only account for a small fraction of cases — the researchers noted that none was found in more than 1% of the cases in the study — collectively they are starting to account for a greater percentage of people with autism.

“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,” Joseph Buxbaum, PhD, director of the Seaver Autism Center and professor of psychiatry, neuroscience and genetics and genomic science at the Mount Sinai School of Medicine, said in a press release.

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