CIC

Below is a summary for the CIC 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.

What is CIC-related syndrome?

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

Key Role

The CIC gene helps control other genes in the cell.

Symptoms

Because the CIC gene is important in the development and function of brain cells, many people who have CIC-related syndrome have:

Intellectual disability and developmental disability
Autism

Do people with CIC-related syndrome look different?

People who have CIC-related syndrome do not look different.

Learning

Everyone in the study that has CIC-related syndrome has developmental delay or intellectual disability.

Behavior

Some people have autism or attention deficit hyperactivity disorder, known as ADHD.

Brain

Some people who have CIC-related syndrome have seizures or changes in the structure of the brain that were detectable by a medical test known as magnetic resonance imaging.

Learn more about CIC and connect with other Simons Searchlight families with the resources below.

Support Resources

Simons Searchlight Community – CIC Facebook group
Geisinger Developmental Brain Disorder Gene Database – CIC

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 CIC.

Research Article Summaries

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

The information available about CIC 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 CIC 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 CIC 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 CIC families.

Click here to share your family’s story!