Research highlight

Exome sequencing for autism

Nature Genetics

May 16, 2011

Sequencing of the exome ― the protein-coding regions of the genome ― of individuals with autism spectrum disorders is reported this week in Nature Genetics.

Autism spectrum disorders (ASDs) include a range of mild to severe developmental disorders, including autism and Asperger syndrome.

Evan Eichler and colleagues sequenced the exomes of 20 individuals with non-familial ASD and their parents. They identify 21 de novo mutations, present in the ASD cases but not inherited from their parents. The authors further identify potentially causative mutations for four of the individuals with ASD. This highlights genes that have been implicated in intellectual disability as well as new candidate genes for ASD. These findings also suggest that de novo mutations contribute substantially to the genetic basis of ASD cases with no family history of the disorder.

doi: 10.1038/ng.835

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