CTNNB1

Below is a summary for the CTNNB1 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.

LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Sharing your information is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”

VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.

What is CTNNB1-related syndrome?

CTNNB1-related syndrome happens when there are changes to the CTNNB1 gene. These changes can keep the gene from working as it should.

Key Role

The CTNNB1 gene plays a key role in the communication that happens between cells and how cells connect to each other.

Symptoms

Many people who have CTNNB1-related syndrome have:

Intellectual disability
Speech delay
Small head
Low muscle tone

Do people who have CTNNB1-related syndrome look different?

People who have CTNNB1-related syndrome can look a little different from others. Appearance can vary and can include some but not all of these features:

Thin upper lip
Wide-spaced teeth
Large nose
Fair, thin hair and fair skin

Speech

Almost everyone had a speech delay.

Learning

Learning issues were common.

Behavior

Autism and other behavior concerns were common. Many people had poor sleep.

Support Resources

Simons Searchlight Community – CTNNB1 Facebook group
CTNNB1 Foundation Website – CTNNB1.org
Cure CTNNB1 – CURECTNNB1.org
Unique – CTNNB1 Guidebook
Geisinger Developmental Brain Disorder Gene Database – CTNNB1

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 CTNNB1.

Research Article Summaries

Below, we have summarized research articles about changes in the CTNNB1 gene. We hope you find this information helpful. The information available about CTNNB1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 CTNNB1 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features Original research article by V. Tucci et al. (2014). Read the abstract here and the Simons Searchlight summary here.
Diagnostic exome sequencing in persons with severe intellectual disability Original research article by J. de Ligt et al. (2012). Read the article here and the Simons Searchlight summary here.
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations Original research article by B. O’Roake et al. (2012). Read the article here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about CTNNB1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

TIGER Study The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in CTNNB1. Click here to learn more about this opportunity. *This study is not affiliated with Simons Searchlight.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

Family Stories

Stories from CTNNB1 families:

Click here to share your family’s story!

Previous Registry Reports