What is MEF2C Related Syndrome?
MEF2C Related Syndrome is a rare disease which causes profound disabilities. You can help us to improve the quality of life of our children.
What causes MEF2C Related Syndrome?
MEF2C Related Syndrome presents itself when there are pathogenic changes to the MEF2C gene. These changes can prevent the gene from working as it should.
We are finding that there are many different types of MEF2C mutations out there. It is our goal to fund research and development that will lead to treatments and a cure for all MEF2C mutations.
Types of Genetic Variants
Copy Number Variants
A copy number variant means a person has a large amount of extra (duplication) or missing (deletion) genetic material. A copy number variant is named by its chromosome location. As an example, 5q14.3 deletion describes a deletion on chromosome 5 that includes the MEF2C gene.
Single Nucleotide Variants
A single nucleotide variant means a spelling change is found within a gene. A person has all the typical genes, but there is a spelling change in the way a gene is spelled.
Missense Variant - A single letter change in DNA causes one building block to change (i.e. MEF2C c.113T>C)
Nonsense Variant - A single letter change in the DNA causes the protein to be shorter than typical (i.e. MEF2C c.860C>A)
Insertions & Duplications - Insertions and duplications add a nucleotide or several nucleotides to the DNA sequence (i.e. MEF2C c.908dup)
Deletion - A deletion removes a nucleotide or several nucleotides from the DNA sequence.
Frameshift Variant - An insertion or deletion changes the gene’s reading frame (i.e. MEF2C c.908dup)
The MEF2C Natural History Study with the lab of Dr. Wendy Chung, Chief of the Department of Pediatrics, Boston Children’s Hospital & Mary Ellen Avery Professor at Harvard Medical School, will assist in the examination of the different types of mutations within our patient group.
How rare is this diagnosis?
At this time we have a population of approximately 400 patients globally, with nearly half of our patients in the United States. We strongly suspect that there are many more patients out there, not yet diagnosed. If patients do not have seizures, they are often diagnosed with autism / cognitive and processing disabilities, and many are not advised to have genetic tests performed to determine if there is an underlying genetic condition causing these symptoms.
What are the symptoms?
MEF2C related syndrome presents a broad range of symptoms including:
Global Developmental Delay
Severely Impaired or Absent Language
Profound Learning Difficulties
Epilepsy (seizures)
Severe Hypotonia / can be mixed with hypertonia
Stereotypical & Repetitive Movements
Sleeping Difficulties
Feeding Difficulties
MEF2C related syndrome is considered a severe form of Autism Spectrum Disorder (ASD).
Is there a treatment?
There are no MEF2C targeted therapeutics currently available; and therefore we must invest in extensive research and development to find treatments and a cure.