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.
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.
Research Article Summaries