ArticleAmerican journal of human genetics2023
Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis.
Article in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- The early life growth of head circumference, weight, and height in infants with autism spectrum disorders: a systematic review.BMC pediatrics · 2023Pooled it
- Pathological Priming and Developmental Heterochrony as Organizing Concepts in Human iPSC Models of Autism Spectrum Disorder.Molecular neurobiology · 2026Review
- Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Functional impact of genetic background on variable expressivity in neurodevelopmental disorders.Nature communications · 2026Article
- Pathophysiological roles of neural stem cells in neuropsychiatric diseases: from plasticity to pharmacological targeting.Acta pharmacologica Sinica · 2026Review
- PTEN variant and genetic backgrounds combine to modify cerebellar neuronal differentiation in autism spectrum disorder.Human molecular genetics · 2026Article
- Head Growth Trajectories During the First Year of Life and Risk of Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2026Article
- A Case Report: Effects of a ketogenic diet on PTEN mutation-associated autism spectrum disorder.Frontiers in nutrition · 2026Article
- Molecular and Genetic Mechanisms in Autism Spectrum Disorder.Annals of neurology · 2025Review
- Cell villages and Dirichlet modeling map human cell fitness genetics.bioRxiv : the preprint server for biology · 2025Article
- Linking autism risk genes to morphological and pharmaceutical screening by high-content imaging: Future directions and opinion.Psychiatry and clinical neurosciences · 2025Review
- Autism risk genes converge onbioRxiv : the preprint server for biology · 2025Article
- Review: Dopamine, Serotonin, and the Translational Neuroscience of Aggression in Autism Spectrum Disorder.JAACAP open · 2025Review
- Article
- Rare and common variants associated with alcohol consumption identify a conserved molecular network.Alcohol, clinical & experimental research · 2024Article
- Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.Human molecular genetics · 2024Article
- Rare and Common Variants Associated with Alcohol Consumption Identify a Conserved Molecular Network.bioRxiv : the preprint server for biology · 2024Article
- Identification of novel NRF2-dependent genes as regulators of lead and arsenic toxicity in neural progenitor cells.Journal of hazardous materials · 2024Article
- Cell-type specific defects in PTEN-mutant cortical organoids converge on abnormal circuit activity.Human molecular genetics · 2023Article
- Toward a better understanding of PHTS heterogeneity: commentary on 'Cell-type specific deficits in PTEN-mutant cortical organoids converge on abnormal circuit activity'.Human molecular genetics · 2023Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Alterations in cortical neurogenesis are implicated in neurodevelopmental disorders including autism spectrum disorders (ASDs). The contribution of genetic backgrounds, in addition to ASD risk genes, on cortical neurogenesis remains understudied. Here, using isogenic induced pluripotent stem cell (iPSC)-derived neural progenitor cells (NPCs) and cortical organoid models, we report that a heterozygous PTEN c.403A>C (p.Ile135Leu) variant found in an ASD-affected individual with macrocephaly dysregulates cortical neurogenesis in an ASD-genetic-background-dependent fashion. Transcriptome analysis at both bulk and single-cell level revealed that the PTEN c.403A>C variant and ASD genetic background affected genes involved in neurogenesis, neural development, and synapse signaling. We also found that this PTEN p.Ile135Leu variant led to overproduction of NPC subtypes as well as neuronal subtypes including both deep and upper layer neurons in its ASD background, but not when introduced into a control genetic background. These findings provide experimental evidence that both the PTEN p.Ile135Leu variant and ASD genetic background contribute to cellular features consistent with ASD associated with macrocephaly.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.