Recent research has shed new light on a particular gene mutation linked to a rare form of autism. A new study is helping scientists better understand the link between the mutation of a gene called MEF2C and a rare form of autism called MEF2C haploinsufficiency syndrome.
The study, which appears in the journal Biological Psychiatry, is the result of a collaboration between the Medical University of South Carolina (MUSC) in Charleston and the Greenwood Genetic Center, also in South Carolina.
In general, people have a pair of MEF2C genes. However, for people with MEF2C haploinsufficiency syndrome, only one of them functions properly.