Below is a summary for the CTBP1 gene observed in research publications. This is not meant to take the place of medical advice.
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.
CTBP1-related syndrome is also called hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS).
The CTBP1 gene plays an important role in controlling the cell cycle; the cell’s response to DNA damage; and cell metabolism, the process by which cells make energy.
Because the CTBP1 gene is important for many different parts of the body, many people may have:
- Feeding issues
- Low muscle tone
- Delayed motor abilities
- Issues walking
- Speech problems
- Brain changes seen on magnetic resonance imaging (MRI)
Do people who have CTBP1-related syndrome look different?
People who have CTBP1-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Bulging of the forehead
- Underdeveloped chin
- Deep-set eyes
- Teeth issues
How many people have CTBP1-related syndrome?
As of 2022, about 17 people in the world with CTBP1-related syndrome have been described in medical research.
Research Article Summaries