DSCAM

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 our full DSCAM gene guide

The online Gene Guide includes more information about DSCAM such as the chance of having another child with this condition, behavior and development concerns linked to DSCAM-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is DSCAM-related syndrome?

You are receiving this information because you or your child has a change in a newly discovered autism gene, DSCAM.

Changes in the DSCAM gene are linked to intellectual disability and autism. Because DSCAM is so new in autism, we don’t have specific information on what medical issues you might expect now and in the near future. We can tell you that DSCAM plays an important role in brain development and is associated with autism. The gene is also likely associated with language and learning.

A medical article describing one person with a change in the DSCAM gene shows that this person had autism, mild developmental delay, repetitive behavior, hyperactive behavior, attention issues, and obsessive behavior.

You, or your family member, are one of what may be a very small number of people in the world with autism who have a change in the DSCAM gene. Scientists expect to find more people who have changes in DSCAM as access to genetic testing improves.

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.

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!