Below is a summary for the CNOT3 gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about CNOT3 such as the chance of having another child with this condition, behavior and development concerns linked to CNOT3-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is CNOT3-related syndrome?
CNOT3-related syndrome happens when there are changes to the CNOT3 gene. These changes can keep the gene from working as it should.
The CNOT3 gene plays a key role in development and in controlling the activity of other genes.
Because the CNOT3 gene is important in the development, many people who have CNOT3-related syndrome have:
- Low muscle tone
- Developmental delay, or intellectual disability, or both
- Behavior issues, including autism
- Short height
How many people have CNOT3-related syndrome?
As of 2019, about 16 people in the world with changes in the CNOT3 gene had been described in the medical literature. The first case of CNOT3-related syndrome was described in 2017. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Of the 16 people described so far that have CNOT3-related syndrome, 8 people have changes that block the function of the CNOT3 gene. The other 8 people have changes that modify the gene but may not completely block its function. This type of change is called a missense change. Three of the people in the missense group have a change in the same location on the CNOT3 gene. Scientists are studying these changes to learn more about their effects on how the gene works.
Research Article Summaries