Newly-discovered mutations on genetic pathways contribute to autism

Researchers focused on children with ‘sporadic autism,’ meaning that they have no family history of the disorder or similar impairments, to evaluate a genetic model for autism spectrum disorder (ASD) risk. They discovered a pathway related to modifying chromatin, the spools of DNA in the cell, and regulating genes in the brain and nervous system. Changes in this pathway contribute to children developing autism in different ways. Mutations in this same pathway may also lead to a variety of disabilities in children. These findings suggest that, at the molecular level, there are many different forms of autism. To identify these mutations, the research team used the latest sequencing technologies and analytical methods to determine the sequence of the protein-coding portion of the human genome, called the ‘exome,’  in family trios (father, mother, and child). For the study, the team studied 677 individuals from 209 families with a single child with autism.