More than 100 genes newly implicated in autism

Scientists have identified more than 100 genes that appear to play a part in causing autism. Two new studies, the result of a collaboration between multiple teams of researchers, implicated individual groups of mutations that are connected to different forms of autism.

Cases of autism in boys with high-IQ carry one group of mutations; autism in girls and boys with low-IQ carries another. Many of the mutations that were found to be specific to girls with autism affect genes that are important in early embryonic development, possibly providing a clue to why autism is much more prevalent in boys than in girls.

The new findings probably will not contribute to clinical diagnosis because of the high individual variance among patients. Scientists estimate that about 30% of autism cases are caused by these mutations, while the rest may be attributed to other unidentified genes, developmental factors, or other unknown causes. Matthew State, of the University of California, San Francisco, one of the collaborating scientists, said of the research:

“In my view, the real importance of these studies is not diagnosis, and it’s not figuring out exactly what percentage of people have de novo mutations, it’s about laying the foundation to transform the understanding of the biological mechanisms of autism.”

Because autism varies case by case, it can be difficult to determine what treatment is best suited for an individual’s needs. According to Michael Ronemus of Cold Spring Harbor Laboratory, one of the authors on the studies, by pinpointing genes related to specific features of autism doctors can potentially figure out how to most effectively help patients.

“If we have better genetic screening when a child is diagnosed with autism we might be able to say, here is the behavioral intervention they need. We already know that if you intervene early on you can produce a more optimal outcome.”

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