They have also been identified in a fraction of patients with autism spectrum disorder (ASD) who also display macrocephaly with and without additional developmental phenotypes characteristic of PHTS.2–8 Supporting the causality of PTEN mutations in these phenotypes, a similar tumour spectrum and autism-like phenotypes have been identified in mice either carrying a single null Pten allele or with tissue-specific deletion of Pten.9–11. The gene discussed is PTEN; the disease is autism spectrum disorder.