MEF2C

Below is a summary for the MEF2C gene observed in research publications. This is not meant to take the place of medical advice.

Access the Full MEF2C Gene Guide

The online Gene Guide includes more information about MEF2C such as the chance of having another child with this condition, behavior and development concerns linked to MEF2C -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

Latest MEF2C Report Download Report

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 Registry Reports” at the bottom of this page.

What is MEF2C -related syndrome?

MEF2C -related syndrome happens when there are changes to the MEF2C gene. These changes can keep the gene from working as it should.

Key Role

The MEF2C gene is important for muscle and brain cells.

Symptoms

Because the MEF2C gene is important in the development and function of brain cells, many people who have MEF2C -related syndrome have:

Intellectual disability
Speech difficulties or no speech
Delayed walking
Autism or features of autism

Learn more about MEF2C and connect with other Simons Searchlight families with the resources below.

Support Resources

Simons Searchlight Community
- MEF2C Facebook group
US MEF2C Foundation
- USMEF2CFoundation.org
- US MEF2C Foundation – Facebook page
MEF2C Foundation
- MEF2CFoundation.com
- MEF2C Foundation – Facebook page
Asociacion MEF2C – website

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 MEF2C .

Research Article Summaries

We currently do not have any article summaries for MEF2C , but we add resources to our website as they become available.

The information available about MEF2C 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 MEF2C articles can be found here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about MEF2C 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.

Family Stories

We do not currently have any stories from MEF2C families.

Click here to share your family’s story!

Previous Registry Reports

MEF2C Quarter 2 Report 2023

Sources and References

Rocha H. et al. European Journal of Medical Genetics, 59, 478-482, (2016). MEF2C haploinsufficiency syndrome: report of a new MEF2C mutation and review www.pubmed.ncbi.nlm.nih.gov/27255693
Borlot F. et al. Seizure, 67, 86-90, (2019). MEF2C -related epilepsy: delineating the phenotypic spectrum from a novel mutation and literature review www.seizure-journal.com/article/S1059-1311(19)30005-6/fulltext