KMT2E
Below is a summary for the KMT2E gene observed in research publications. This is not meant to take the place of medical advice.
The latest Simons Searchlight report includes updated information on your genetic community.
Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!
View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.
What is O’Donnell-Luria-Rodan syndrome?
O’Donnell-Luria-Rodan syndrome happens when there are changes in the KMT2E gene. These changes can keep the gene from working as it should.
Key Role
The KMT2E gene plays an important role in controlling the cell cycle.
Symptoms
Because the KMT2E gene is important for many parts of the body, some people may have:
- Low muscle tone
- Speech delay
- Feeding and intestinal issues
- Autistic features
- Intellectual disability
- Seizures
- Brain changes seen on magnetic resonance imaging (MRI)
- Skin picking and self-harming behavior
- Aggression
- Anxiety
Do people who have O’Donnell-Luria-Rodan syndrome look different?
People who have O’Donnell-Luria-Rodan syndrome may look different. Appearance can vary and can include some but not all of these features:
- Larger than average head size
- Prominent forehead
- Deep-set eyes
- A forward rounding of the upper back
How many people have O’Donnell-Luria-Rodan syndrome?
As of 2022, about 40 people in the world with O’Donnell-Luria-Rodan syndrome have been described in medical research.
Support Resources
- Simons Searchlight Community – KMT2E Facebook group
- Geisinger Developmental Brain Disorder Gene Database – KMT2E
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. Check out the GeneReviews for KMT2E.
Research Article Summaries
We currently do not have any article summaries for KMT2E, but we add resources to our website as they become available.
The information available about KMT2E is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our 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 KMT2E articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about KMT2E genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.
Previous Quarterly Reports