ArticleEuropean journal of human genetics : EJHG2018
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 44 citations in OpenAlex.
- Restoring the Balance: CRISPRa-Driven β-Tubulin Compensation as a Strategy for Tubulinopathy Treatment.International journal of molecular sciences · 2026Article
- Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly.Orphanet journal of rare diseases · 2026Article
- Bridging the gap: an emerging link between tubulinopathies and ciliopathies.NPJ genomic medicine · 2026Review
- Phenotypic prediction of missense variants via deep contrastive learning.Nature biomedical engineering · 2026Article
- The Role of Prenatal Neurosonography in Identification of Tubulinopathy-Narrative Review.Life (Basel, Switzerland) · 2026Review
- Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephaly.EMBO reports · 2026Article
- Tubulin autoregulation factors SCAPER and TTC5 recruit γ-tubulin to non-centrosomal MTOCs for neuronal microtubule nucleation and axon regeneration.bioRxiv : the preprint server for biology · 2025Article
- tubg1 Somatic Mutants Show Tubulinopathy-Associated Neurodevelopmental Phenotypes in a Zebrafish Model.Molecular neurobiology · 2025Article
- TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review.Frontiers in pediatrics · 2025Article
- A circle of life: platelet and megakaryocyte cytoskeleton dynamics in health and disease.Open biology · 2024Review
- Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case.Cureus · 2024Article
- Craniosynostosis Associated With Novel TUBG1 Mutation (NM_001070.4:c.821C>T) (p.Thr274Ile).Cureus · 2024Article
- Novel loss of function mutation inFrontiers in cellular neuroscience · 2023Article
- The tubulin database: Linking mutations, modifications, ligands and local interactions.PloS one · 2023Article
- A De Novo Missense Variant inGenes · 2022Article
- Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.Prenatal diagnosis · 2022Review
- Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.PLoS computational biology · 2022Article
- Brain Organization and Human Diseases.Cells · 2022Review
- The Game of Tubulins.Cells · 2021Review
- Defining the phenotypical spectrum associated with variants inJournal of medical genetics · 2021Article
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Authors and funding
9 authors at 7 institutions in 6 countries.
Funding
Abstract
Tubulinopathies are a heterogeneous group of conditions with a wide spectrum of clinical severity resulting from variants in genes of the tubulin superfamily. Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly. We here report eight additional patients with four novel heterozygous variants in TUBG1 identified by next-generation sequencing (NGS) analysis. All had severe motor and cognitive impairment and all except one developed seizures in early life. The core imaging features included a pachygyric cortex with posterior to anterior gradient, enlarged lateral ventricles most pronounced over the posterior horns, and variable degrees of reduced white matter volume. Basal ganglia, corpus callosum, brainstem, and cerebellum were often normal, in contrast to patients with variants in other tubulin genes where these structures are frequently malformed. The imaging phenotype associated with variants in TUBG1 is therefore more in line with the phenotype resulting from variants in LIS1 (a.k.a. PAFAH1B1). This difference may, at least in part, be explained by gamma-tubulin's physiological function in microtubule nucleation, which differs from that of alpha and beta-tubulin.
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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.