MEF2C & Autism

What is the connection between MEF2C and autism?

MEF2C is a transcription factor, meaning that it works by regulating the expression of many other genes. Researchers have found that a significant number of genes implicated in autism are abnormally expressed without MEF2C. Currently there are hundreds of autism-linked genes, but the fact that a single gene can influence so many different autism risk genes positions MEF2C as central to typical brain development.

A MEF2C variant can present itself in many ways. Many patients with a MEF2C related syndrome have been diagnosed with autism. There are several overlapping clinical similarities between patients with MEF2C related syndrome and autism. This overlap of symptoms is so prominent that individuals diagnosed with autism may not be aware that there may be a genetic cause for symptoms categorized as autism.

‍Autism Speaks, dedicated to autism research and solutions, defines ASD as a broad range of conditions characterized by challenges with social skills, repetitive behaviors, speech, and nonverbal communication.

How can I test for MEF2C Related Syndrome?

We have partnered with Probably Genetic in an effort to find our patients. An accurate diagnosis provides access to more informed medical care, a community that fully understands, and the opportunity to make a big impact.