Below is a summary for the DSCAM  gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

Key Role

DSCAM plays an important role in brain development and is associated with autism. The gene is also likely associated with language and learning.

How many people have a de novo gene change in DSCAM ?

As of 2021, researchers had described fewer than 10 people in the world with autism or neurodevelopmental disorders and changes in the DSCAM gene. The first case of this condition was described in 2014. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Do people who have de novo changes in the DSCAM gene look different?

We do not yet know if people who have de novo changes in the DSCAM gene look consistently different from others.

Learn more about DSCAM and connect with other Simons Searchlight families with the resources below.


Support Resources


Research Article Summaries

We currently do not have any article summaries for DSCAM, but we add resources to our website as they become available. The information available about DSCAM is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow. Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for DSCAM articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about DSCAM genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

We do not currently have any stories from DSCAM  families. Click here to share your family’s story!