ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 108 citations in OpenAlex.
- A novel truncating FBN1 variant in a family with Marfan syndrome.Human genome variation · 2026Article
- Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.Journal of translational medicine · 2025Article
- Characterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants.Molecular syndromology · 2025Article
- Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome.Journal of molecular and cellular cardiology plus · 2025Article
- Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.European journal of human genetics : EJHG · 2025Article
- Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.Scientific reports · 2025Article
- Case Report:Frontiers in genetics · 2025Article
- A novel missense variant ofFrontiers in pediatrics · 2025Article
- Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing.Scientific reports · 2024Article
- Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype-Phenotype Correlations.International journal of molecular sciences · 2024Article
- Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.Orphanet journal of rare diseases · 2024Article
- Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome.Italian journal of pediatrics · 2024Article
- The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders.Biomolecules & biomedicine · 2024Article
- Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.BMC pediatrics · 2023Article
- Analysis of the genetic contribution to thoracic aortic aneurysm or dissection in a prospective cohort of patients with familial and sporadic cases in East China.Orphanet journal of rare diseases · 2023Article
- Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.Diagnostics (Basel, Switzerland) · 2023Review
- Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.Molecular genetics & genomic medicine · 2023Review
- Nanoscale Structural Comparison of Fibrillin-1 Microfibrils Isolated from Marfan and Non-Marfan Syndrome Human Aorta.International journal of molecular sciences · 2023Article
- Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.American journal of medical genetics. Part A · 2023Article
- Impact of pathogenicJournal of medical genetics · 2023Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMarfan syndrome is a systemic disorder that typically involves FBN1 mutations and cardiovascular manifestations. We investigated FBN1 genotype-phenotype correlations with aortic events (aortic dissection and prophylactic aortic surgery) in patients with Marfan syndrome.
methodsGenotype and phenotype information from probands (n = 179) with an FBN1 pathogenic or likely pathogenic variant were assessed.
resultsA higher frequency of truncating or splicing FBN1 variants was observed in Ghent criteria-positive patients with an aortic event (n = 34) as compared with all other probands (n = 145) without a reported aortic event (79 vs. 39%; P < 0.0001), as well as Ghent criteria-positive probands (n = 54) without an aortic event (79 vs. 48%; P = 0.0039). Most probands with an early aortic event had a truncating or splicing variant (100% (n = 12) and 95% (n = 21) of patients younger than 30 and 40 years old, respectively). Aortic events occurred at a younger median age in patients with truncating/splicing variants (29 years) as compared with those with missense variants (51 years). A trend toward a higher frequency of truncating/splicing variants in patients with aortic dissection (n = 21) versus prophylactic surgery (n = 13) (85.7 vs. 69.3%; not significant) was observed.
conclusionThese aortic event- and age-associated findings may have important implications for the management of Marfan syndrome patients with FBN1 truncating and splicing variants.Genet Med 17 3, 177-187.
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