Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication difficulties and repetitive behaviors. Several genes have previously been connected to autism; collectively, they account for 20% of all cases. Most people with these genes have severe forms of autism and other neurological conditions like epilepsy and intellectual disabilities.
The Columbia researchers used information from over 43,000 autistic persons, including 35,000 people from the SPARK autism research study of the Simons Foundation, to find hidden autism genes that can explain the bulk of cases.Â
They uncovered 60 genes linked to autism that may provide important clues to the causes of autism across the full spectrum of the disorder. Five genes have a more moderate impact on autism characteristics, including cognition, than previously discovered genes.
These five genes also explain why autism often seems to run in families. Plus, these genes are often inherited from the participant’s parents.
Wendy Chung, MD, Ph.D., the Kennedy Family Professor of Pediatrics and chief of clinical genetics in the Department of Pediatrics at the Columbia University Vagelos College of Physicians and Surgeons, said, “Overall, the genes we found may represent a different class of genes that are more directly associated with the core symptoms of ASD than previously discovered genes.”
“We need to do more detailed studies including more individuals who carry these genes to understand how each gene contributes to the features of autism, but we think these genes will help us unravel the biological underpinnings that lead to most cases of autism.”
“Many more moderate-effect genes remain to be discovered, and finding them should help researchers better understand the biology of the brain and behavior across the full spectrum of autism.”
Journal Reference:
- Zhou, X., Feliciano, P., Shu, C. et al. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nat Genet (2022). DOI: 10.1038/s41588-022-01148-2