In a recent report published in the journal Science, researchers studied the genetic makeup of over 9,000 people from 2,600 families affected by autism spectrum disorder (ASD). Autism spectrum disorder is a developmental disorder which affects communication and behavior with symptoms often appearing within the first two years of life. Researchers identified rare changes in noncoding regions of the paternal genes that can be passed to children with ASD, further increasing their risk. Researchers repeated their analysis and found similar results from 1,771 families from the 1000 Genomes Project. This discovery was surprising because earlier studies noted a maternal bias in transmission of genetic variants. The results suggest that rare inherited noncoding variants predispose children to ASD, with differing contributions from each parent.
A short summary about the research article was posted on GenomeWeb (here). The full research article, “Paternally inherited cis-regulatory structural variants are associated with autism” by Brandler et al. was published in Science.
