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 our full CTNNB1 Gene Guide

The online Gene Guide includes more information about CTNNB1 such as the chance of having another child with this condition, behavior and development concerns linked to CTNNB1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

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View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.

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 neurodevelopmental disorder have:

  • Intellectual disability
  • Developmental delay
  • Speech delay
  • Motor delay
  • Behavioral challenges, such as autism, aggression, attention deficit hyperactivity disorder, also called ADHD
  • Sleep difficulty
  • Movement issues, including cerebral palsy
  • Feeding challenges
  • Retinal issues such as fewer blood vessels, holes, scarring, and retinal detachment that may lead to vision impairment. A common finding may be called familial exudative vitreoretinopathy (FEVR)
  • Less common features that may be associated with CTNNB1 genetic variants include heart defects and exaggerated startle response

How many people have CTNNB1 neurodevelopmental disorder?

As of 2023, more than 90 people with CTNNB1 neurodevelopmental disorder have been identified in medical research.

Genetic variants in CTNNB1

You may have seen reports of people with cancer having genetic variations in CTNNB1. In general, genetic variants that are linked to CTNNB1 neurodevelopmental disorder are different from genetic variants that are associated with cancer. Genetic variants that are linked to CTNNB1 neurodevelopmental disorder do not increase the risk of cancer in a person.

Learn more about the CTNNB1 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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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 CTNNB1 .

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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.
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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.

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Family Stories

Stories from  CTNNB1  families:

Click here to share your family’s story!

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Previous Quarterly Reports