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Updated: Oct 17, 2025
Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
Published on: March 2, 2018
PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic
Tyrone DeSpenza1, Marina Carlson2, Shreyas Panchagnula3
1Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT 06510, USA; Interdepartmental Neuroscience Program, Yale School of Medicine, Yale University, New Haven, CT 06510, USA; MD/PhD Program, Yale School of Medicine, Yale University, New Haven, CT 06510, USA.
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.
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