Below is a summary for the EHMT1 gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about EHMT1 such as the chance of having another child with this condition, behavior and development concerns linked to EHMT1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is EHMT1-related syndrome?
EHMT1-related syndrome happens when there are changes to the EHMT1 gene. These changes can keep the gene from working as it should. EHMT1-related syndrome is also called Kleefstra syndrome. Kleefstra syndrome can also be caused by a larger genetic change that affects the EHMT1 gene and nearby genes.
The EHMT1 gene helps to control other genes.
Because the EHMT1 gene is important in the development and function of brain cells, many people who have EHMT1-related syndrome have:
- Intellectual disability and developmental delay
- Low muscle tone
- Speech and motor delay
How many people have EHMT1-related syndrome?
As of 2021, about 100 people in the world with changes in the EHMT1 gene had been described in the medical literature. The first case of EHMT1– related syndrome was described in 2006. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Research Article Summaries