ArticleThe British journal of ophthalmology2002
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
Article in The British journal of ophthalmology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 63 citations in OpenAlex.
- Trial
- Identification of Novel and RecurrentMolecular syndromology · 2026Article
- Structural and Signaling Mechanisms of Aortic Wall Failure in Heritable Thoracic Aortic Disease.Cells · 2026Review
- Diagnosis of Marfan Syndrome Following Progressive Myopia and Secondary Lens-Induced Angle Closure Crisis.Cureus · 2024Article
- Optic neuropathy associated with TGFβ dysregulation in mice with a glaucoma-causative mutation of ADAMTS10.Matrix biology : journal of the International Society for Matrix Biology · 2022Article
- Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis.International ophthalmology · 2022Article
- Methylation of FBN1, SPG20, ITF2, RUNX3, SNCA, MLH1, and SEPT9 genes in circulating cell-free DNA as biomarkers of colorectal cancer.Cancer biomarkers : section A of Disease markers · 2022Article
- Biological Preparation and Mechanical Technique for Determining Viscoelastic Properties of Zonular Fibers.Journal of visualized experiments : JoVE · 2021Article
- Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome.Disease models & mechanisms · 2019Article
- A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser.Journal of pediatric genetics · 2018Article
- The N-Terminal Region of Fibrillin-1 Mediates a Bipartite Interaction with LTBP1.Structure (London, England : 1993) · 2017Article
- Review
- Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.Journal of human genetics · 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
- Acute aortic dissection (Stanford type B) during pregnancy.Journal of perinatology : official journal of the California Perinatal Association · 2013Article
- Alternative diagnoses with ectopia lentis.Eye (London, England) · 2012Article
- Assembly of fibrillin microfibrils governs extracellular deposition of latent TGF beta.Journal of cell science · 2010Article
- FBN1 mutations in patients with descending thoracic aortic dissections.American journal of medical genetics. Part A · 2010Article
- Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.The Journal of biological chemistry · 2009Article
- Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.Molecular vision · 2008Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMarfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the lenses. EL, with or without minor skeletal changes, exists as an independent autosomal dominant phenotype linked to the same FBN1 locus.
methodsA consecutive series of 11 patients, affected predominantly by EL, was analysed for FBN1 mutations using PCR, SSCA, and sequencing.
resultsSix mutations were identified, of which three are novel and one is recurrent in two patients, thus establishing a mutation incidence in this group of 7/11 (63%).
conclusionThe FBN1 variants reported are clustered in the first 15 exons of the gene, while FBN1 mutations reported in the literature are distributed throughout the entire length of the gene. A different type of FBN1 mutation presents in this group of patients, compared with MFS, with arginine to cysteine substitutions appearing frequently.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.