ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed, 42 citations in OpenAlex.
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- Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing.NPJ genomic medicine · 2025Article
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- Wnt Signaling Inhibition Prevents Postnatal Inflammation and Disease Progression in Mouse Congenital Myxomatous Valve Disease.Arteriosclerosis, thrombosis, and vascular biology · 2024Article
- Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines.Annals of laboratory medicine · 2024Article
- A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.European journal of human genetics : EJHG · 2024Article
- Marfan syndrome: insights from animal models.Frontiers in genetics · 2024Review
- 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
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- Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance.Frontiers in genetics · 2022Review
- Novel and recurrentFrontiers in medicine · 2022Article
- CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans.Molecular genetics & genomic medicine · 2021Article
- Novel fibrillin-1 mutation with variable presentation as a thoracic aortic aneurysm and intramural hematoma.JTCVS techniques · 2021Article
- Novel p.G1344E mutation inThe British journal of ophthalmology · 2021Article
- Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations.Frontiers in molecular biosciences · 2021Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic FBN1 testing is pivotal for confirming the clinical diagnosis of Marfan syndrome. In an effort to evaluate variant causality, FBN1 databases are often used. We evaluated the current databases regarding FBN1 variants and validated associated phenotype records with a new Marfan syndrome geno-phenotyping tool called the Marfan score. METHODS AND
resultsWe evaluated four databases (UMD-FBN1, ClinVar, the Human Gene Mutation Database (HGMD), and Uniprot) containing 2,250 FBN1 variants supported by 4,904 records presented in 307 references. The Marfan score calculated for phenotype data from the records quantified variant associations with Marfan syndrome phenotype. We calculated a Marfan score for 1,283 variants, of which we confirmed the database diagnosis of Marfan syndrome in 77.1%. This represented only 35.8% of the total registered variants; 18.5-33.3% (UMD-FBN1 versus HGMD) of variants associated with Marfan syndrome in the databases could not be confirmed by the recorded phenotype.
conclusionFBN1 databases can be imprecise and incomplete. Data should be used with caution when evaluating FBN1 variants. At present, the UMD-FBN1 database seems to be the biggest and best curated; therefore, it is the most comprehensive database. However, the need for better genotype-phenotype curated databases is evident, and we hereby present such a database.Genet Med advance online publication 01 December 2016.
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