Recent human genetic studies have shown that deletion or mutation of the MEF2C gene is associated with a severe neurodevelopmental disorder with features of autism and intellectual disability.

Recent findings reveal that MEF2C is also linked to other brain-related disorders. The MEF2C gene is located at one of the 108 regions in the human genome associated with significant risk for schizophrenia, he said."Like autism, schizophrenia is a neurodevelopmental disorder - something goes wrong during brain development that gives rise to the later onset of symptoms