CUL3

The information for this summary of CUL3-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our CUL3 Gene Guide

The online Gene Guide includes more information about CUL3 such as the chance of having another child with this condition, behavior and development concerns linked to CUL3-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

CUL3-related syndrome is also called CUL3-related neurodevelopmental disorder. For this webpage, we will be using the name CUL3-related syndrome to encompass the wide range of variants observed in the people identified.

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What is CUL3-related neurodevelopmental disorder?

CUL3-related syndrome happens when there are changes in the CUL3 gene. These changes can keep the gene from working as it should.

Changes in the CUL3 gene can also cause another condition called pseudohypoaldosteronism type 2E (PHA2E) or Gordon syndrome.

Genetic variants that cause PHA2E occur in specific regions of CUL3 called intron 8, exon 9, and intron 9. Genetic variants that cause CUL3-related syndrome are thought to occur in other regions of the gene.

The information below covers CUL3 genetic variants that lead to a neurodevelopmental disorder.

Key Role

The CUL3 gene is involved in several developmental processes in the body, including regulation of the cell cycle, response to stress, cell-to-cell communication, DNA replication, and the circadian rhythm.

Symptoms

Because the CUL3 gene is important for brain activity, many people who have CUL3-related syndrome have:

Heart defects
Difficulty feeding
Global development delay
Intellectual disability
Speech difficulty
Issues with walking
Seizures
Autism
Brain changes seen on magnetic resonance imaging (MRI)

How many people have CUL3-related syndrome?

As of 2024, over 30 people with CUL3-related syndrome have been described in medical research. Only a few people have been described in detail.

Support Resources

Simons Searchlight Community – CUL3 Facebook group
CUL3 Support and Awareness – cul3.org
Geisinger Developmental Brain Disorder Gene Database – CUL3

GeneReviews

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 (coordinator@simonssearchlight.org).

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.