Pettigrew syndrome (PGS) is an X-linked intellectual disability characterized by intellectual disability, Dandy-Walker malformation, seizures, choreoathetosis, coarse facies, basal ganglia calcification, spasticity, and contractures. It has been reported that mutations in AP1S2 cause PGS. AP1S2 encodes the sigma-2 subunit of the heterotetrameric adaptor protein 1 (AP1) complex. AP1 is found in the cytosolic side of coated vesicles in the Golgi compartment. It mediates the recruitment of clathrin and the recognition of sorting signals of transmembrane receptors.
