Genome-wide characteristics of de novo mutations in autism.

A list of mutations in the genomes of autism patients shows new mutations that increase with paternal age and copy number variable regions. Autism spectrum disorder (ASD) is a complex genetic disease, but previous studies focused only on the 1.5% of the genome that encodes proteins. Now, a team of researchers from China, North America and Europe has compared the entire genome of ASD patients to that of their healthy parents and determined that most new mutations arose on the chromosome inherited from the father. However, when clustered new mutations were found in ASD, not only did they mostly originate from the mother, but they could also be found adjacent to spontaneous copy number variations where the mutation rate was significantly elevated. Of the mutations predicted to be damaging, 38% fell into non-coding genomic regions and often disrupted the regulation of genes. These data represent a step towards better understanding who is at risk for ASD, but more data on mutation and DNA methylation changes are needed to develop an accurate disease model.