KMT2C

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.

Support Resources

- Simons Searchlight Community – KMT2C Facebook group
- Geisinger Developmental Brain Disorder Gene Database – KMT2C

GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for KMT2C.

Research Article Summaries

Below, we have summarized research articles about changes in the KMT2C gene. We hope you find this information helpful.

The information available about KMT2C is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for KMT2C articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Synaptic, transcriptional and chromatin genes disrupted in autism

Original research article by S. De Rubeis et al. (2014).

Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about KMT2C genetic changes by taking part in our research. You can learn more about the project and sign up here.

Family Stories

Stories from KMT2C families:

Gabriela
Anthony

Click here to share your family’s story!