PTEN (Phosphatase and tensin homolog) is one of the most frequently mutated tumor suppressor genes in spontaneous cancers [1, 2] and germline mutations of PTEN have been associated with PTEN hamartoma tumor syndromes (PHTS), such as Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome [3–5], and with autism-spectrum disorders [6, 7]. The gene discussed is PTEN; the disease is Bannayan-Riley-Ruvalcaba syndrome.