CTBP1
The information for this summary of CTBP1-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full CTBP1 Gene Guide
The online Gene Guide includes more information about CTBP1 such as the chance of having another child with this condition, behavior and development concerns linked to CTBP1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
CTBP1-related syndrome is also called hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS). For this webpage, we will be using the name CTBP1-related syndrome to encompass the wide range of variants observed in the people identified.
What is CTBP1-related syndrome?
CTBP1-related syndrome happens when there are changes in the CTBP1 gene. These changes can keep the gene from working as it should.
Key Role
The CTBP1 gene plays an important role in controlling the cell cycle, the cell’s response to DNA damage, and cell metabolism, which is the process by which cells make energy.
Symptoms
Because the CTBP1 gene is important for brain activity, many people who have CTBP1-related syndrome have:
- Developmental delays
- Intellectual disability
- Feeding issues
- Low muscle tone
- Delayed motor abilities
- Walking issues
- Speech problems
- Brain changes seen on magnetic resonance imaging (MRI)
How many people have CTBP1-related syndrome?
As of 2024, at least 16 people with CTBP1-related syndrome have been described in medical research.
Support Resources
- Simons Searchlight Community – CTBP1 Facebook group
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.
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 CTBP1 articles can be found here.
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.
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.
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.