CNOT3
The information for this summary of CNOT3-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full CNOT3 Gene Guide
The online Gene Guide includes more information about CNOT3 such as the chance of having another child with this condition, behavior and development concerns linked to CNOT3-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is CNOT3-related syndrome?
CNOT3-related syndrome happens when there are changes to the CNOT3 gene. These changes can keep the gene from working as it should.
Key Role
The CNOT3 gene plays a role in controlling the cell cycle.
Symptoms
Because the CNOT3 gene is important in brain development and function, many people who have CNOT3-related syndrome have:
- Global developmental delay
- Intellectual disability
- Autism
- Seizures
- Speech delay
- Low muscle tone or hypotonia
- Heart issues
- Kidney issues
- Hearing loss
- Vision issues
- Curvature of the spine or scoliosis
- Frequent infections
- Joint hypermobility
- Abnormal brain imaging
How many people have CNOT3-related syndrome?
As of 2024, at least 38 people with CNOT3-related syndrome have been identified in a medical clinic. The oldest person reported in research publications was 55 years old. The first case of CNOT3-related syndrome was described in 2017.
Support Resources
- Simons Searchlight Community – CNOT3 Facebook group
- Geisinger Developmental Brain Disorder Gene Database – CNOT3
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.
There is currently no GeneReviews for CNOT3.
Research Article Summaries
We currently do not have any article summaries for CNOT3, but we add resources to our website as they become available.
The information available about CNOT3 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 CNOT3 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 CNOT3 genetic changes by taking part in our research. You can learn more about the project and sign up here.