This website provides information on patients with mutations in the AP1S2 gene, including clinical data, molecular data, management and research options.

The AP1S2 gene encodes the sigma-2 subunit of the heterotetrametric adaptor protein-1 (AP1) complex, which is implied in intracellular clathrin-mediated trafficking.

AP1S2 defects have been associated with X-linked non-syndromic and syndromic intellectual disability. Patients present with hypotonia early in infancy, progressive developmental delay leading to intellectual disability, severe behavioral disturbances such as dramatic self-injurious behaviors and autism-like conduct, and in some cases, epilepsy. In syndromic presentations, these clinical features have been associated with hydrocephalus and basal ganglia calcification (Fried syndrome), Dandy–Walker malformation, movement disorder, and iron deposition in the basal ganglia (Pettigrew syndrome) or other brain malformations.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the AP1S2 gene.

Professor Vincenzo Leuzzi, Department of Human Neuroscience, Sapienza University of Rome, Italy, vincenzo.leuzzi@uniroma1.it
Associate Professor Mario Mastrangelo, Department of Women/Child Health and Urological Sciences, Sapienza University of Rome. Unit of Child Neurology and Psychiatry-Department of Neurosciences/Mental Health, Azienda Ospedaliero-Universitaria Policlinico Umberto I, Rome, Italy, mario.mastrangelo@uniroma1.it
Giuliana Lentini, MD, Department of Human Neuroscience, Sapienza University of Rome, Italy, giuliana.lentini@uniroma1.it