Article
PTEN variant and genetic backgrounds combine to modify cerebellar neuronal differentiation in autism spectrum disorder.
Human molecular genetics - 9 Feb 2026
Chen Ya, Fu Shuai, Sit Timothy P H, Wynshaw-Boris Anthony
Abstract excerpt
Mutations in the PTEN gene have been implicated in autism spectrum disorders (ASD), particularly among individuals with comorbid macrocephaly. In our previous study, we demonstrated that the PTEN p.Ile135Leu variant, in an ASD-related genetic background dependent fashion, disrupts both cortical neurogenesis and gliogenesis. While abnormal cerebellar development is a recognized feature of ASD, the specific...
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