There is a great deal of interest in one of the gene that is usually deleted in Phelan-McDermid Syndrome, SHANK3 (also known as PROSAP2).
Mutations in the gene SHANK3 have been shown to elicit similar phenotypes to those seen in the brains of patients with these disorders.
A link between glutamate receptors and autism was also identified via the structural protein ProSAP1/SHANK2 and potentially ProSAP2/SHANK3.
SHANK3 |