PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets

Tyrone DeSpenza, Marina Carlson, Shreyas Panchagnula, Stephanie Robert, Phan Q. Duy, Nell Mermin-Bunnell, Benjamin C. Reeves, Adam Kundishora, Aladine A. Elsamadicy, Hannah Smith, Jack Ocken, Seth L. Alper, Sheng Chih Jin, Ellen J. Hoffman, Kristopher T. Kahle

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations

Abstract

The lack of effective treatments for autism spectrum disorder (ASD) and congenital hydrocephalus (CH) reflects the limited understanding of the biology underlying these common neurodevelopmental disorders. Although ASD and CH have been extensively studied as independent entities, recent human genomic and preclinical animal studies have uncovered shared molecular pathophysiology. Here, we review and discuss phenotypic, genomic, and molecular similarities between ASD and CH, and identify the PTEN–PI3K–mTOR (phosphatase and tensin homolog–phosphoinositide 3-kinase–mammalian target of rapamycin) pathway as a common underlying mechanism that holds diagnostic, prognostic, and therapeutic promise for individuals with ASD and CH.

Original languageEnglish
Pages (from-to)961-976
Number of pages16
JournalTrends in Neurosciences
Volume44
Issue number12
DOIs
StatePublished - Dec 2021

Keywords

  • mTOR
  • macrocephaly
  • neurodevelopmental disorders
  • rapamycin
  • ventriculomegaly

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