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


Support Resources


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.

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.


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.


Family Stories

Stories from CTNNB1 families:

Click here to share your family’s story!