ArticleNature communications2018
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 41 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- Prevalence of Cytoplasmic Actin Mutations in Diffuse Large B-Cell Lymphoma and Multiple Myeloma: A Functional Assessment Based on Actin Three-Dimensional Structures.International journal of molecular sciences · 2020Pooled it
- Functional studies in a neonate with a DOCK11 VUS guide clinical care.Journal of human immunity · 2026Article
- Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB-Related Neurocutaneous Disease Spectrum.Clinical genetics · 2026Article
- Identification of the ACTB p.Ser348Leu de novo variant in individuals with syndromic neonatal diabetes.EBioMedicine · 2026Article
- Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.American journal of human genetics · 2026Article
- Immune-related actinopathies at the cross-road of immunodeficiency, autoimmunity and autoinflammation.Nature reviews. Immunology · 2026Review
- The Baraitser-Winter Cerebrofrontofacial Syndrome Recurrent R196H Variant in Cytoplasmic β-Actin Impairs Its Cellular Polymerization and Stability.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephaly.EMBO reports · 2026Article
- Multiscale characterization ofiScience · 2025Article
- Molecular mechanisms of hotspot variants in cytoskeletal β-actin associated with Baraitser-Winter syndrome.The FEBS journal · 2025Article
- Disruption of SETD3-mediated histidine-73 methylation by the BWCFF-associated β-actin G74S mutation.FEBS letters · 2025Article
- β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies.Journal of clinical immunology · 2025Article
- Photo-Biomodulation of the Hippocampus Using Near-Infrared Laser to Enhance Cognitive Function in Mice.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.Nature communications · 2025Article
- Structural and functional mechanisms of actin isoforms.The FEBS journal · 2025Review
- De NovoHuman mutation · 2025Article
- Article
- β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination.Journal of immunology (Baltimore, Md. : 1950) · 2024Article
- Article
- Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.Journal of clinical medicine · 2024Review
Corrections and comments
- Erratum issued
Authors and funding
27 authors at 10 institutions in 3 countries.
Funding
Abstract
Germline mutations in the ubiquitously expressed ACTB, which encodes β-cytoplasmic actin (CYA), are almost exclusively associated with Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF). Here, we report six patients with previously undescribed heterozygous variants clustered in the 3'-coding region of ACTB. Patients present with clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy. Using patient-derived fibroblasts, we demonstrate cohort specific changes to β-CYA filament populations, which include the enhanced recruitment of thrombocytopenia-associated actin binding proteins (ABPs). These perturbed interactions are supported by in silico modeling and are validated in disease-relevant thrombocytes. Co-examination of actin and microtubule cytoskeleton constituents in patient-derived megakaryocytes and thrombocytes indicates that these β-CYA mutations inhibit the final stages of platelet maturation by compromising microtubule organization. Our results define an ACTB-associated clinical syndrome with a distinct genotype-phenotype correlation and delineate molecular mechanisms underlying thrombocytopenia in this patient cohort.
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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.