Ultra-rare variants point to new autism candidate genes

Abstract

An analysis of whole-genome sequences from thousands of families -one of the largest such studies to date -has linked 163 new genes to autism. The study appeared today in Nature Genetics. The newly linked genes harbor ultra-rare inherited genetic variants -alterations to the genome that were passed from non-autistic parents to their autistic offspring. The variants are so rare that each one is found in only a single family.Most previous genome sequencing studies for autism have focused on spontaneous, or de novo, mutations -genetic alterations that appear in a child but not in either parent. Those mutations are relatively easy to detect and have implicated hundreds of genes in autism."The unique part about this paper is that they're looking at a type of genetic variant that has not been studied so much in autism," says Sagiv Shifman, professor of genetics at The Hebrew University of Jerusalem, Israel, who was not involved in the study. "De novo mutations are just easier to study. They are low-hanging fruits."