Our goal?

We are a community created by parents for parents having kids/relatives with an MEF2C gene anomalie.
This can be MEF2C mutations,duplication or deletions, including the 5q14.3 microdeletion syndrome as the common cause for development delay is the MEF2C.

The gene

The mutation or deletion of the MEF2C gene is the cause of a neuro-genetic disorder characterized by severe intellectual and developmental disability, mutations of this gene have resulted in severe psychomotor retardation, periodic tremor and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features, mild thinning of the corpus callosum and delay of white matter myelination in the occipital lobes.Myocyte-specific enhancer factor 2C also known as MADS box transcription enhancer factor 2, polypeptide C is a protein that in humans is encoded by the MEF2C gene.MEF2C is a transcription factor in the Mef2 family.The gene is located at 5q14.3 on the minus (Crick) strand and is 200,723 bases in length. The encoded protein has 473 amino acids with a predicted molecular weight of 51.221 kiloDaltons.


MEF2C.org