Scan of whole genomes ties regulatory regions to autism risk

Children with autism have an excess of spontaneous mutations in DNA that controls the expression of autism genes, a new analysis suggests. This finding contradicts similar analyses from other teams.

The study also found that many children with autism carry multiple spontaneous mutations, some of them in autism genes. The results hint that a few mutations scattered throughout the genome underlie a significant number of autism cases, the researchers say.

“I think we have a handle on another major cause of autism,” says lead investigatorEvan Eichler, professor of genome sciences at the University of Washington. The work appeared 27 September in Cell.

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4th October 2017