New genetic mutations trigger many cases of autism

John Timmer

Viewed from some perspectives, autism is a genetic disease. Studies of identical twins show that, when one sibling is affected, the other is also, with a frequency approaching 90 percent. Several genes associated with autism have been identified due to their prevalence in individual families with high rates of autism. All of that, however, doesn’t help explain why there are so many of what appear to be sporadic cases of autism, where a single individual in a family has the disorder; these account for the majority of all cases of autism.

Over the past several years, a case has been building that many of the sporadic cases are also genetic, the result of brand new mutations that appear only in the affected individual. A set of studies that appear in the journal Neuron make a compelling case that these new mutations can also account for a significant fraction of the total incidence of autism, but still aren’t common enough to fully account for the incidence of the disease.

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