News

April 30, 2021

Diversity and Severity of Autism Symptoms Linked to Mutation Locations

One of the most recognizable characteristics of autism is an amazing diversity of associated behavioral symptoms. Clinicians view autism as a broad spectrum of related disorders, and the origin of the disease's heterogeneity has puzzled scientists, doctors, and affected families for decades.

In a recent study, led by Dennis Vitkup, PhD, associate professor of systems biology, researchers have made an important step towards understanding the biological mechanisms underlying the cognitive and behavioral diversity of autism cases triggered by de novo truncating mutations. These mutations occur in parents’ germline cells and usually strongly disrupt the functions of target genes. De novo truncating mutations are responsible for close to 5% of autism cases and up to 20% of cases seen clinically.

Read the full article in the CUIMC Newsroom.