The Role of PTEN in Neurodevelopment

Mol Neuropsychiatry. 2020 Apr;5(Suppl 1):60-71. doi: 10.1159/000504782. Epub 2020 Jan 21.


PTEN is a lipid and protein phosphatase that regulates cell growth and survival. Mutations to PTEN are highly penetrant for autism spectrum disorder (ASD). Here, we briefly review the evidence linking PTEN mutations to ASD and the mouse models that have been used to study the role of PTEN in neurodevelopment. We then focus on the cellular phenotypes associated with PTEN loss in neurons, highlighting the role PTEN plays in neuronal proliferation, migration, survival, morphology, and plasticity.

Keywords: ASD; Autism; Autism spectrum disorder; Epilepsy; PTEN; Synapse.

Publication types

  • Review