Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

doi:10.1016/j.ajhg.2020.01.018

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Article

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

American journal of human genetics - 5 Mar 2020

Barbosa Sónia, Greville-Heygate Stephanie, Bonnet Maxime, Godwin Annie, Fagotto-Kaufmann Christine, Kajava Andrey V, Laouteouet Damien, Mawby Rebecca, Wai Htoo Aung, Dingemans Alexander J M, Hehir-Kwa Jayne, Willems Marjorlaine, Capri Yline, Mehta Sarju G, Cox Helen, Goudie David, Vansenne Fleur, Turnpenny Peter, Vincent Marie, Cogné Benjamin, Lesca Gaëtan, Hertecant Jozef, Rodriguez Diana, Keren Boris, Burglen Lydie, Gérard Marion, Putoux Audrey, Cantagrel Vincent, Siquier-Pernet Karine, Rio Marlene, Banka Siddharth, Sarkar Ajoy, Steeves Marcie, Parker Michael, Clement Emma, Moutton Sébastien, Tran Mau-Them Frédéric, Piton Amélie, de Vries Bert B A, Guille Matthew, Debant Anne, Schmidt Susanne, Baralle Diana

Abstract excerpt

The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the GTPase RAC1 and modulating actin cytoskeleton remodeling. Pathogenic variants in TRIO are associated with neurodevelopmental diseases, including intellectual disability (ID) and autism spectrum disorders (ASD). Here, we report the largest...

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Identifiers

PMID: 32109419
DOI: 10.1016/j.ajhg.2020.01.018
PMCID: PMC7058823

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.PMID 32109419Read ↗

Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephalySemantic proximity Read ↗

Heterogeneous Genotype-Phenotype Associations in TRIO-Related Neurodevelopmental Disorder Revealed by Meta-AnalysisSemantic proximity Read ↗

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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.Semantic proximity Read ↗

De Novo TRIO Missense Variants Disrupt Ras-GEF Domains and Cause Congenital Ventriculomegaly and Hydrocephalus.Semantic proximity Read ↗

An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.Semantic proximity Read ↗

Heterozygosity for neurodevelopmental disorder-associated <i>TRIO</i> variants yields distinct deficits in behavior, neuronal development, and synaptic transmission in miceSemantic proximity Read ↗

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Common Genetic Variants in TRIO Are Associated With Autism in Chinese Han Population.Semantic proximity Read ↗

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