Below is a summary for the CUL3 gene observed in research publications. This is not meant to take the place of medical advice.

What is CUL3-related syndrome?

Because CUL3 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 CUL3 plays an important role in brain development and is associated with autism. The gene is also likely associated with language and learning.

Why does my child have a change in the CUL3 gene?

No parent causes their child’s de novo gene change. We know this because no parent has any control over the gene changes that they do or do not pass on to their children. Please keep in mind that nothing a parent does before or during the pregnancy causes this to happen. The gene change takes place on its own and cannot be predicted or stopped.

How many people have a de novo gene change in the CUL3 gene?

As of 2019, researchers had found fewer than 10 people in the world with autism or neurodevelopmental disorders and changes in the CUL3 gene. The first case of this condition was found in 2012. Scientists expect to find more people who have the condition as access to genetic testing improves.

How are people who have changes in CUL3 treated?

Scientists and doctors have only just begun to study people who have changes in the CUL3 gene. At this point, there are no medicines designed to treat the condition. A genetic diagnosis can help people decide on the best way to track the condition and manage therapies. Doctors can refer people to specialists for:

  • Physical exams and brain studies
  • Genetics consults
  • Developmental and behavior studies
  • Other issues, as needed

Support Resources



GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Check out the GeneReviews for CUL3-related pseudohypoaldostrenism type II*.

*Please note that genetic changes in CUL3 can result in one of two different conditions. Some genetic changes result in the person having pseudohypoaldostrenism type II, other genetic changes result in CUL3-related neurodevelopmental disorder. We are still learning more about how CUL3 can cause these two health conditions. There is no GeneReviews for CUL3-related neurodevelopmental disorder, which is applicable for most families participating in Simons Searchlight, not pseudohypoaldostrenism type II that is linked here. If you have any questions about this difference or would like more information please contact our team (


Research Article Summaries

We currently do not have any article summaries for CUL3, but we add resources to our website as they become available.

The information available about CUL3 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 CUL3 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 CUL3 genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

Stories from CUL3 families:

Click here to share your family’s story!