Missense mutations across the entire structure of PTEN have been associated with PTEN hamartoma tumor syndrome (PHTS) [6], an overarching condition with a broad range of phenotypes including different cancers and other tumorigenic states like Cowden syndrome [7], Bannayan-Riley-Ruvalcaba syndrome [8], Proteus [9] and Proteus-like [10] syndromes, to brain-related disorders such as macrocephaly, developmental delay and autism spectrum disorder (ASD) [11]. Here, PTEN is linked to Cowden disease.