ArticleEuropean journal of human genetics : EJHG2019
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- The responsive nucleus: morphological signatures of cellular state.Nucleus (Austin, Tex.) · 2026Review
- Lipid Droplet-Localized Spindle Apparatus Coiled-Coil Protein 1 Regulates Lipid Droplet Distribution.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Variable A-type lamin expression in Merkel cell carcinoma cell lines and its association with nuclear integrity.Scientific reports · 2026Article
- Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.The Journal of clinical endocrinology and metabolism · 2025Article
- LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.Journal of advanced research · 2025Review
- Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant.Scientific reports · 2025Article
- Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.International journal of molecular sciences · 2024Article
- Homology directed telomere clustering, ultrabright telomere formation and nuclear envelope rupture in cells lacking TRF2Nature communications · 2023Article
- Leukocyte Nuclear Morphology Alterations in Dilated Cardiomyopathy Caused by a Lamin AC Truncating Mutation (International journal of molecular sciences · 2022Article
- Review
- Review
- Deformation of the nucleus by TGFβ1 via the remodeling of nuclear envelope and histone isoforms.Epigenetics & chromatin · 2022Article
- Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.NPJ genomic medicine · 2021Article
- Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants.Journal of clinical medicine · 2021Article
- Super-Resolution Imaging of the A- and B-Type Lamin Networks: A Comparative Study of Different Fluorescence Labeling Procedures.International journal of molecular sciences · 2021Article
- Lamin regulates the dietary restriction response via the mTOR pathway in Caenorhabditis elegans.Journal of cell science · 2021Article
- Nuclear Envelope Integrity in Health and Disease: Consequences on Genome Instability and Inflammation.International journal of molecular sciences · 2021Review
- Diversity of Nuclear Lamin A/C Action as a Key to Tissue-Specific Regulation of Cellular Identity in Health and Disease.Frontiers in cell and developmental biology · 2021Review
- Nuclear filaments: role in chromosomal positioning and gene expression.Nucleus (Austin, Tex.) · 2020Review
- Review
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Authors and funding
8 authors.
Funding
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Abstract
The phenotypic heterogeneity of Lamin A/C (LMNA) variants renders it difficult to classify them. As a consequence, many LMNA variants are classified as variant of unknown significance (VUS). A number of studies reported different types of visible nuclear abnormalities in LMNA-variant carriers, such as herniations, honeycomb-like structures and irregular Lamin staining. In this study, we used lamin A/C immunostaining and nuclear DAPI staining to assess the number and type of nuclear abnormalities in primary dermal fibroblast cultures of laminopathy patients and healthy controls. The total number of abnormal nuclei, which includes herniations, honeycomb-structures, and donut-like nuclei, was found to be the most discriminating parameter between laminopathy and control cell cultures. The percentage abnormal nuclei was subsequently scored in fibroblasts of 28 LMNA variant carriers, ranging from (likely) benign to (likely) pathogenic variant. Using this method, 27 out of 28 fibroblast cell cultures could be classified as either normal (n = 14) or laminopathy (n = 13) and no false positive results were obtained. The obtained specificity was 100% (CI 40-100%) and sensitivity 77% (46-95%). We conclude that assessing the percentage of abnormal nuclei is a quick and reliable method, which aids classification or confirms pathogenicity of identified LMNA variants causing formation of aberrant lamin A/C protein.
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