ArticleJournal of human genetics2019
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- Architects of the Developing Brain: Cytoskeleton-Organizing Molecules in Neurodevelopmental Disorders.Cells · 2026Review
- A Pleiotropic and Functionally DivergentCells · 2025Article
- The p.R66W Variant inCells · 2024Article
- An unusual presentation of de novo RAC3 variation in prenatal diagnosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.European journal of human genetics : EJHG · 2023Review
- Dispensable role of Rac1 and Rac3 after cochlear hair cell specification.Journal of molecular medicine (Berlin, Germany) · 2023Article
- Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.Human molecular genetics · 2023Article
- Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.Brain : a journal of neurology · 2022Article
- Article
- Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.HGG advances · 2022Article
- Review
- Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.American journal of medical genetics. Part A · 2021Article
- Review
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
Abstract
RAC3 is a member of the Rho GTPases family, which has important regulatory functions in aspects of neuronal morphogenesis. Rho GTPases show a conformational change in two regions (switch I and II) through GTP binding, which provides a platform for selective interactions with functionally diverse proteins. Missense variants in the switch I and II regions of RAC3 were recently suggested to cause severe intellectual disability and brain malformations. Here, we report an individual with a novel de novo RAC3 variant (c.101 C>G, p.(Pro34Arg)), which substitutes for an evolutionarily conserved amino acid within the switch I region. The patient showed severe global developmental delay, intellectual disability, epilepsy, and laryngeal dystonia. An imaging study revealed characteristic brain dysplasia, including coexistence of the middle interhemispheric variant of holoprosencephaly and brainstem dysmorphism. Our study supports that RAC3 variants cause syndromic neurodevelopmental disorders and brain structural abnormality, and expands the phenotypic spectrum of RAC3-related disorders.
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Registered trials
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