Thursday, April 13, 2017

Analysis winnows list of mutations tied to autism

As many as one in three rare mutations seen in people with autism have nothing to do with the condition, a new study suggests1.
Researchers looked at more than 10,000 spontaneous, or de novo, mutations identified in people with autism, intellectual disability or developmental delay. De novo mutations are non-inherited mutations that are present in a child but not in her parents.
The researchers found about 3,000 of these mutations in a database of sequences from people in the general population. Finding the same mutation at similar rates in people with and without autism casts doubt on the notion that the mutation plays a role in the condition, says lead researcher Mark Daly, associate professor of medicine at Massachusetts General Hospital.