ArticleNature communications2025
Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility.
Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Convergent blood-brain barrier breakdown in schizophrenia and autism spectrum disorders: a systematic review of preclinical animal models.Fluids and barriers of the CNS · 2026Pooled it
- Elevated Rates of Gastrointestinal Dysfunction in Children with Neurodevelopmental Disabilities: Not Just an Autism Issue.medRxiv : the preprint server for health sciences · 2026Article
- Interaction of the Gut Microbiota and the Enteric Nervous System: Implications in Gastrointestinal Disorders Associated With Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2026Review
- Gut microbial culturomics identifies autism-associatedMicrobiology spectrum · 2026Article
- JUND-driven stress-responsive astrocytes promote neuronal apoptosis via enhanced gap junction signaling in autism spectrum disorder.Molecular autism · 2026Article
- Linking Genetic Risk to Disease-Relevant Cellular States via Metacell-Informed Modeling with ICePop.bioRxiv : the preprint server for biology · 2026Article
- Synapse specific alterations of autophagy are a hallmark of Danon disease.bioRxiv : the preprint server for biology · 2026Article
- Xenbase: A Guide to the Xenopus Genetics and Genomics Knowledgebase.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Epigenetic Regulation of Imprinted Genes in the Neurodevelopment of Offspring Born to Women with Preeclampsia: A Review.International journal of women's health · 2026Review
- Digestive Neurobiology in Autism: From Enteric and Central Nervous System Interactions to Shared Genetic Pathways.International journal of molecular sciences · 2025Review
- The role of Goldilocks protein kinase DYRK1A in embryonic development.Developmental biology · 2025Review
- Functional Neurogenomics to Dissect Disease Mechanisms Across Models.Annual review of genomics and human genetics · 2025Review
- Review
- Convergence of autism proteins at the cilium.bioRxiv : the preprint server for biology · 2025Article
- Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.Journal of neurodevelopmental disorders · 2024Article
- A patient organization perspective: charting the course to a cure for SCN2A-related disorders.Therapeutic advances in rare diseaseReview
Corrections and comments
- Update of
Authors and funding
11 authors.
Funding
Abstract
The co-occurrence of autism and gastrointestinal distress is well-established, yet the molecular underpinnings remain unknown. The identification of high-confidence, large-effect autism genes offers the opportunity to identify convergent, underlying biology by studying these genes in the context of the gastrointestinal system. Here we show that the expression of these genes is enriched in human prenatal gut neurons and their migratory progenitors, suggesting that the development and/or function of these neurons may be disrupted by autism-associated genetic variants, leading to gastrointestinal dysfunction. Here we document the prevalence of gastrointestinal issues in patients with large-effect variants in sixteen autism genes, highlighting dysmotility, consistent with potential enteric neuron dysfunction. Using Xenopus tropicalis, we individually target five of these genes (SYNGAP1, CHD8, SCN2A, CHD2, and DYRK1A) and observe disrupted enteric neuronal progenitor migration for each. Further analysis of DYRK1A reveals that perturbation causes gut dysmotility in vivo, which can be ameliorated by treatment with either of two serotonin signaling modulators, identified by in vivo drug screening. This work suggests that atypical development of enteric neurons contributes to the gastrointestinal distress commonly seen in individuals with autism and that serotonin signaling may be a productive therapeutic pathway.
Indexed as
Identifiers
What OpenQuestion holds
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.