Nature: 72 Previously Unknown Genetic Variants May Be Linked to Autism

The researchers focused on microexons – very short segments of genetic material that influence which proteins brain cells produce. The scientists developed a machine-learning model to identify these regions and determine how genetic changes might disrupt their function.

By analysing data from thousands of human tissue and individual cell samples, the researchers identified 1,514 previously unknown microexons. They then examined the genomes of participants in three major genetic studies involving more than 25,000 people from 7,391 families in total.

The scientists identified 72 rare genetic variants associated with autism. These variants were found in 2.5% of participants diagnosed with the condition and were not detected in their siblings without autism. Among carriers of these variants, 82% had previously had no genetic cause of their condition identified.

The researchers tested some of the identified alterations in human neurons grown in the laboratory. The experiments confirmed that these changes affect how cells use microexons.

The authors emphasize that the findings are currently based primarily on computational predictions and that the identified variants cannot, on their own, be used to diagnose autism. Furthermore, these genetic changes are found in only a small proportion of people with the condition.