Below is a summary for the KMT2C gene observed in research publications. This is not meant to take the place of medical advice.
What is KMT2C?
Because KMT2C is so new in autism, we don’t have specific information on what medical issues you might expect now and in the near future. We can tell you that KMT2C plays an important role in brain development and may be associated with autism. The gene is also likely associated with language and learning.
Why does my child have a change in the KMT2C gene?
No parent causes their child’s de novo gene change. We know this because no parent has any control over the gene changes that they do or do not pass on to their children. Please keep in mind that nothing a parent does before or during the pregnancy causes this to happen. The gene change takes place on its own and cannot be predicted or stopped.
How many people have a de novo gene change in the KMT2C gene?
As of 2019, researchers had found fewer than five people in the world with autism or neurodevelopmental disorders and changes in the KMT2C gene. The first case of this condition was found in 2018. Scientists expect to find more people who have the condition as access to genetic testing improves.
How are people who have changes in KMT2C treated?
Scientists and doctors have only just begun to study people who have changes in the KMT2C gene. At this point, there are no medicines designed to treat the condition.
Research Article Summaries