Below is a summary for the KDM6B gene observed in research publications. This is not meant to take the place of medical advice.
What is KDM6B-related syndrome?
KDM6B-related syndrome happens when there are changes to the KDM6B gene. These changes can keep the gene from working as it should.
The KDM6B gene helps control other genes during brain development.
Because the KDM6B gene is important in the development and function of brain cells, many people who have KDM6B-related syndrome have:
- Intellectual disability
- Developmental delay
Do people who have KDM6B-related syndrome look different?
People who have KDM6B-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Noticeable bridge of nose
- Wide hands
Fingers or toes that are webbed or joined, also called syndactyly.
How many people have KDM6B-related syndrome?
As of 2020, doctors had described about 12 people in the world with changes in the KDM6B gene. The first case of KDM6B-related syndrome was described in 2019. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Almost one-half have an intellectual disability. (5/11)
One-half have autism. (6/12)
Everyone studied to date that has KDM6B-related syndrome has language delay. (11/11)
Learn more about the KDM6B gene and connect with other Simons Searchlight families with the resources below:
Research Article Summaries