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New Autism Genes Discovered

12 October 2015

By Megan Brooks

October 06, 2015

The largest genetic study of autism spectrum disorder (ASD) to date has identified 65 genes that contribute to autism, including 28 for which there is "very high confidence" that they play a role in the risk of developing ASD, a multicenter US research team reports.

Twenty-seven of these genes are new discoveries, first author Stephan Sanders, PhD, of the University of California, San Francisco, told Medscape Medical News.

The study also confirms that there are six larger regions of the genome that are prone to de novo copy number variants (dnCNVs) that contribute to autism risk. The study also hints that small deletion dnCNVs "often have a single critical gene," Dr Sanders added.

"Autism is largely a genetic disorder, so it follows that finding the genes involved in autism is a logical first step to understanding the biology of autism," Dr Sanders said. "The discovery of 65 autism risk genes and six risk regions serves as a foundation for understanding the neurobiology of autism. By considering when, where, and how these genes interact, we can focus on the developmental time period, brain region, and cell type that is disrupted in autism," he said.



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