99 risk genes define autism spectrum disorders

99 genes active mostly during early brain development have been implicated to play an important role in autism spectrum disorders.

Preliminary results were previously reported on 18th October: 34 new genes associated with autism. Since the beginning of December, the paper is available at the bioRxiv repository and provides details of the study.

Autism was associated with 10,552 rare novel mutations. 70% of sequenced individuals had at least one of those mutations.

Most commonly mutated genes: SCN2A, SYNGAP1, CHD8, ADNP, FOXP1.

In addition to previously known “autism genes”, which were physiologically responsible for brain development and other genes regulation, a new category was discovered – mutations of genes governing cell cytoskeleton (molecules ensuring shape of a cell) also contribute to autism spectrum disorders.

More: “Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk”, F. Satterstrom et al., 2018, doi:10.1101/484113.