A study of 2,377 children with autism, their parents and siblings – data from families with one child with autism and one or more children without the condition – has led to new information on how different types of mutations affect autism risk.
The genetic data was obtained from exome sequencing, which looks at only the protein-coding portions of the genome and came from families participating in the Simons Simplex Collection and from the Simons Foundation Autism Research Initiative, including millions of genetic variants, and has been made freely available to other autism researchers.
Significant progress in the past five years has been made in identifying the genetic risks for autism, particularly by finding that newly appearing gene mutations can contribute to the risk of autism. These mutations are called de novo because they appear in the child but not in either parent. Not all cases of autism however, can be attributed to de novo mutations.
To try to learn what else might confer genetic susceptibility to autism, researchers examined risk from other types of mutations, including those inherited from the mother or father.
The study also provides one of the most complete genetic pictures of autism to date. The scientist were able to compare both small mutations of single base-pairs in DNA as well as larger deletions and duplications of the genome.
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