ArticleAmerican journal of human genetics1995
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed, 236 citations in OpenAlex.
- Clinical and molecular genetic description of a Marfan-like syndrome in a Golden Retriever puppy.Journal of veterinary internal medicine · 2026Article
- Characterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants.Molecular syndromology · 2025Article
- Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome.Clinical genetics · 2025Article
- Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing.NPJ genomic medicine · 2025Article
- A novel missense variant ofFrontiers in pediatrics · 2025Article
- Case Report:Frontiers in genetics · 2025Article
- 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
- A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.European journal of human genetics : EJHG · 2024Article
- Article
- Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review.Orphanet journal of rare diseases · 2021Review
- Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.PloS one · 2021Article
- Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination.Neurospine · 2020Article
- A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.BMC medical genetics · 2020Article
- Two rare missense mutations in the fibrillin‑1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome.Molecular medicine reports · 2018Article
- A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser.Journal of pediatric genetics · 2018Article
- Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea.Journal of Korean medical science · 2017Article
- Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.Heart and vessels · 2016Review
- FBN1 contributing to familial congenital diaphragmatic hernia.American journal of medical genetics. Part A · 2015Article
- Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome.Orphanet journal of rare diseases · 2014Observational
1 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause the Marfan syndrome (MFS). This statement is supported by the observations that the classic Marfan phenotype cosegregates with intragenic and/or flanking marker alleles in all families tested and that a significant number of FBN1 mutations have been identified in affected individuals. We have now devised a method to screen the entire coding sequence and flanking splice junctions of FBN1. On completion for a panel of nine probands with classic MFS, six new mutations were identified that accounted for disease in seven (78%) of nine patients. Nine additional new mutations have been characterized in the early stages of a larger screening project. These 15 mutations were equally distributed throughout the gene and, with one exception, were specific to single families. One-third of mutations created premature termination codons, and 6 of 15 substituted residues with putative significance for calcium binding to epidermal growth factor (EGF)-like domains. Mutations causing severe and rapidly progressive disease that presents in the neonatal period can occur in a larger region of the gene than previously demonstrated, and the nature of the mutation is as important a determinant as its location, in predisposing to this phenotype.
Indexed as
Identifiers
7611299PMC1801235W1555580499What OpenQuestion holds
Registered trials
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