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Studies Link Autism to Rare Genetic Mutations, Father's Age — Physician’s First Watch

Medical News |
April 5, 2012

Studies Link Autism to Rare Genetic Mutations, Father's Age

Patients may ask about a widely reported trio of studies, published online in Nature, that link autism to rare genetic mutations and paternal age.

Three separate research groups analyzed genes from blood samples of families in which parents without signs of autism gave birth to a child who developed the disorder. Overall, nearly 600 families were studied. The researchers found that several de novo mutations were associated with increased risk for autism. In one of the studies, risk appeared especially high when the father was aged 35 and older.

The New York Times emphasizes that the mutations are "extremely rare and together account for a tiny fraction of autism cases."

One expert told the Times: "These studies aren't so much a breakthrough, because we knew this was coming. But I'd say it's a turning point. ... I think it's fair to expect that we will find 20, 30, maybe more such mutations in the next year or two."

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