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Article

RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.

American journal of medical genetics. Part A - 1 Jul 2024

Schwartzmann Sarina, Zhao Max, Sczakiel Henrike Lisa, Hildebrand Gabriele, Ehmke Nadja, Horn Denise, Mensah Martin A, Boschann Felix

Abstract excerpt

Pathogenic variants in TRIO, encoding the guanine nucleotide exchange factor, are associated with two distinct neurodevelopmental delay phenotypes: gain-of-function missense mutations within the spectrin repeats are causative for a severe developmental delay with macrocephaly (MIM: 618825), whereas loss-of-function missense variants in the GEF1 domain and truncating variants throughout the gene lead to a milder...

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PMID: 38517182
DOI: 10.1002/ajmg.a.63599

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RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.PMID 38517182Read ↗

More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly.Semantic proximity Read ↗

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

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

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

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

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

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case reportSemantic proximity Read ↗

Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity.Semantic proximity Read ↗

Modeling human mutations to understand TRIO GEF function during development.Semantic proximity Read ↗

Emerging roles of TRIO and F-actin-binding protein in human diseases.Semantic proximity Read ↗

De novo protein-coding gene variants in developmental stuttering.Semantic proximity Read ↗

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

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