PTEN signaling in autism spectrum disorders

Curr Opin Neurobiol. 2012 Oct;22(5):873-9. doi: 10.1016/j.conb.2012.05.004. Epub 2012 Jun 2.


PTEN germline mutations are found in a small subset of children diagnosed with autism spectrum disorder (ASD) and accompanying macrocephaly. In this review, we discuss recent advances that offer insight into the pathogenesis of this subgroup of autism patients. We provide an overview of how disrupting PTEN function influences neuronal cells, and describe efforts to decipher the cellular mechanisms associated with altered social behaviors. We discuss the PTEN downstream signaling pathways that likely mediate these cellular and behavioral effects. In addition, emerging data suggest that PTEN mutation can synergize with mutations in other autism susceptibility genes to contribute to the development of autistic behaviors. These studies extend our knowledge of PTEN and the PTEN signaling pathway, and offer molecular and cellular clues to better understand the etiology of ASDs.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Brain / metabolism*
  • Brain / pathology
  • Child
  • Child Development Disorders, Pervasive* / genetics
  • Child Development Disorders, Pervasive* / metabolism
  • Child Development Disorders, Pervasive* / pathology
  • Humans
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Mutation / genetics*
  • PTEN Phosphohydrolase / genetics
  • PTEN Phosphohydrolase / metabolism*
  • Signal Transduction / physiology*


  • Membrane Proteins
  • TPTE protein, human
  • PTEN Phosphohydrolase