CTBP1

Learn more about the CTBP1 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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Research Article Summaries

Below, we have summarized research articles about changes in the CTBP1 gene. We hope you find this information helpful.

The information available about CTBP1 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.

 

A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia and tooth enamel defects

Original research article by D.B. Beck et al. (2016).

Read the abstract here and the Simons Searchlight summary here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CTBP1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

Stories from CTBP1 families:

Click here to share your family’s story!