Principal Investigator Guoping Feng
Phelan-McDermid syndrome (PMS) is a genetic disorder in which a large proportion of patients present with autism symptoms. Since one of the genes missing in PMS, termed SHANK3, has also been found mutated in individuals with autism in the general population there is great interest in the study of autism in PMS. However, previous studies in PMS have not looked at genes close to SHANK3 and many cases have questionable diagnoses of autism. We intend to address these uncertainties by studying SHANK3 and neighboring genes in patients with PMS with well-established diagnosis of autism.