A novel splice site mutation in AP1S2 gene for X‐linked mental retardation in a Chinese pedigree and literature review

摘要

BackgroundPettigrew syndrome (PGS) is a rare X‐linked mental retardation that caused by AP1S2 mutation. The pathogenesis of AP1S2 deficiency has remained elusive. The purpose of this study is to give a comprehensive overview of the phenotypic and genetic spectrum of AP1S2 mutations.