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A specific structural variation on chromosome 16 dramatically boosts the risk of autism, according to a study published today in the New England Journal of Medicine. The finding–one of the most significant to date–permits the development of new diagnostic tests to identify children at risk, and could ultimately point to specific biochemical pathways to target in drug development.

“This is one of the single largest [influences] and most frequent genetic causes for autism identified so far,” says Bai-Lin Wu,director of the Genetics Diagnostic Laboratory at Children’s Hospital Boston and one of the senior authors on the study.

Autism spectrum disorder–or autism, as it is commonly called–refers to a group of developmental disabilities with wide-ranging language, social, and behavioral symptoms. The disorder is known to have a strong genetic influence, with up to 90 percent of cases thought to have a genetic component. However, because the disorder is linked to a combination of genetic variations, each playing a minor role, identifying specific genetic triggers has been difficult. Now new microarray technologies, which allow scientists to screen a million or more genetic variations in thousands of patients, are enabling the much larger studies needed to pinpoint these triggers.

In the new paper, scientists say that they used microarrays to scour the DNA of more than 2,000 individuals with autism. They found that deletion or duplication of approximately 500 of the same DNA letters on chromosome 16 was strongly linked to autism, accounting for about one percent of cases. “While that doesn’t sound like a huge number, the fact that these people carry the identical spontaneous deletion or duplication would be incredibly unlikely to happen by chance,” says Mark Daly, a geneticist at Massachusetts General Hospital’s (MGH) Center for Human Genetic Research, in Boston, and at the Whitehead Institute, in Cambridge, and one of the study’s senior authors.

The results were independently identified by three different groups–at MGH; Children’s Hospital Boston; and deCODE Genetics, in Iceland–that are studying three different populations, giving added weight to the work.

The findings build on previous reports that autism is linked to genetic deletions or duplications that arise spontaneously, rather than being passed down through generations. In almost all cases, parents of the affected people did not carry the chromosome 16 variation.

One of the most immediate clinical benefits of the research will be the development of inexpensive diagnostic tests. “Because the variation occurs so frequently, you could directly test for the presence or absence of a duplication or deletion as part of standardized genetic testing for autism,” says James Gusella, a neurogeneticist at Harvard Medical School, in Boston, who participated in the research. For example, children who show developmental delays but are too young to undergo clinical autism testing could be screened for this variation, allowing parents and doctors to prescribe intervention for those who test positive. “We will be able to find at-risk children early on so that language and behavior problems can be treated much earlier,” says Yiping Shen, director of research and development at Children’s Hospital’s Genetics Diagnostic Laboratory, who was also involved in the work.

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Credit: Agilent Technologies

Tagged: Biomedicine, DNA, autism

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