ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- Introducing Allopurinol to the Medical Treatment of Marfan Syndrome: Advantages, Limitations, and Potential Extension to other Aortopathies.Cardiovascular drugs and therapy · 2026Review
- Charting the Phenotypic Landscape of FBN1 Variants in Marfan Syndrome With Ectopia Lentis Through Extreme Phenotype Sampling.Investigative ophthalmology & visual science · 2026Article
- Genome Sequencing Readily Detects a Copy Number Variant inCJC open · 2026Article
- Article
- 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
- A Marfan-Associated FBN1 Nonsense Mutation Mouse Model Reveals Adventitial Inflammation During Aneurysm Progression.bioRxiv : the preprint server for biology · 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
- Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.Italian journal of pediatrics · 2024Review
- Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.Journal of the American Heart Association · 2024Article
- Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome.Investigative ophthalmology & visual science · 2023Article
- Clinical and genetic findings in Chinese families with congenital ectopia lentis.Molecular genetics & genomic medicine · 2023Article
- Conclusion of diagnostic odysseys due to inversions disruptingJournal of medical genetics · 2023Article
- Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.American journal of medical genetics. Part A · 2023Article
- The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.Human mutation · 2022Review
- Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance.Frontiers in genetics · 2022Review
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Authors and funding
27 authors at 17 institutions in 4 countries.
Funding
Abstract
purposeIn a large cohort of 373 pediatric patients with Marfan syndrome (MFS) with a severe cardiovascular phenotype, we explored the proportion of patients with MFS with a pathogenic FBN1 variant and analyzed whether the type/location of FBN1 variants was associated with specific clinical characteristics and response to treatment. Patients were recruited on the basis of the following criteria: aortic root z-score > 3, age 6 months to 25 years, no prior or planned surgery, and aortic root diameter < 5 cm.
methodsTargeted resequencing and deletion/duplication testing of FBN1 and related genes were performed.
resultsWe identified (likely) pathogenic FBN1 variants in 91% of patients. Ectopia lentis was more frequent in patients with dominant-negative (DN) variants (61%) than in those with haploinsufficient variants (27%). For DN FBN1 variants, the prevalence of ectopia lentis was highest in the N-terminal region (84%) and lowest in the C-terminal region (17%). The association with a more severe cardiovascular phenotype was not restricted to DN variants in the neonatal FBN1 region (exon 25-33) but was also seen in the variants in exons 26 to 49. No difference in the therapeutic response was detected between genotypes.
conclusionImportant novel genotype-phenotype associations involving both cardiovascular and extra-cardiovascular manifestations were identified, and existing ones were confirmed. These findings have implications for prognostic counseling of families with MFS.
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