Researchers found that “de novo”, or newly created, mutations played an important role in autistic spectrum disorders. These defects were “overwhelmingly paternal” in origin.
Fathers were four times more likely to generate the mutations than mothers. The gene defects were also “positively correlated” with paternal age. The findings add to previous research showing older fathers are slightly more at risk of having an autistic child.
Scientists from the University of Washington in Seattle analysed the DNA of 677 individuals from 209 families with a single child with autism, and 50 unaffected brothers and sisters.
They identified 248 “de novo” mutations, of which 120 were classified as “severe” and likely to produce shortened or malfunctioning proteins. From this list, the researchers focused on 60 mutations most likely to contribute to autism risk.
There was “strong direct evidence” of a “substantially” higher mutation rate in fathers which rose with increasing age.
Dr Kevin Mitchell, from the Smurfit Institute of Genetics at Trinity College Dublin, said: “These studies reinforce the fact that autism is not one disorder — not clinically and not genetically either. Like intellectual disability or epilepsy or many other conditions, it can be caused by mutations in any of a very large number of genes. The ones we know about so far make up maybe 20-25% of cases — these new studies add to that list and also show how far we have to go to complete it.”