ArticleHuman mutation2013
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.
Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 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
- Architects of the Developing Brain: Cytoskeleton-Organizing Molecules in Neurodevelopmental Disorders.Cells · 2026Review
- Please inhibit responsibly: Natural and synthetic actin toxins as useful tools in cell biology.Molecular biology of the cell · 2025Review
- 7p21.1 Microdeletion Encompassing the ACTB Gene in a Japanese Child: Longitudinal Clinical and Neuroimaging Findings.Cureus · 2025Article
- Pan-cancer analyses identify oncogenic drivers, expression signatures, and therapeutic vulnerabilities in RHO GTPase pathway genes.Frontiers in bioinformatics · 2025Article
- Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.Human genetics · 2022Review
- A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.American journal of medical genetics. Part A · 2022Article
- Identification of aFrontiers in genetics · 2022Article
- Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.American journal of medical genetics. Part A · 2021Article
- Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.Journal of cutaneous pathology · 2020Article
- Could Dissimilar Phenotypic Effects ofMolecular syndromology · 2019Article
- Multilineage ACTB mutation in a patient with fibro-osseous maxillary lesion and pilocytic astrocytoma.American journal of medical genetics. Part A · 2018Article
- Comprehensive genotype-phenotype correlation in lissencephaly.Quantitative imaging in medicine and surgery · 2018Review
- Essential nucleotide- and protein-dependent functions ofProceedings of the National Academy of Sciences of the United States of America · 2018Article
- Exome Pool-Seq in neurodevelopmental disorders.European journal of human genetics : EJHG · 2017Article
- Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.Human mutation · 2017Article
- Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.NPJ genomic medicine · 2016Article
- Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.American journal of medical genetics. Part A · 2015Article
- Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.European journal of human genetics : EJHG · 2015Article
- Congenital defects in neutrophil dynamics.Journal of immunology research · 2014Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Exome sequence analysis can be instrumental in identifying the genetic etiology behind atypical disease. We report a patient presenting with microcephaly, dysmorphic features, and intellectual disability with a tentative diagnosis of Dubowitz syndrome. Exome analysis was performed on the patient and both parents. A de novo missense variant was identified in ACTB, c.349G>A, p.E117K. Recent work in Baraitser-Winter syndrome has identified ACTB and ACTG1 mutations in a cohort of individuals, and we rediagnosed the patient with atypical Baraitser-Winter syndrome. We performed functional characterization of the variant actin and show that it alters cell adhesion and polymer formation supporting its role in disease. We present the clinical findings in the patient, comparison of this patient to other patients with ACTB/ACTG1 mutations, and results from actin functional studies that demonstrate novel functional attributes of this mutant protein.
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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.