ArticleMolecular vision2012
TGFBI gene mutations in a Korean population with corneal dystrophy.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 31 citations in OpenAlex.
- Precise CRISPR-Mediated Editing of theInternational journal of molecular sciences · 2026Article
- Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population.Scientific reports · 2025Article
- Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.International journal of molecular sciences · 2021Article
- Prevalence of granular corneal dystrophy type 2-relatedMolecular vision · 2021Article
- Corneal dystrophies.Nature reviews. Disease primers · 2020Review
- Generation of TGFBI knockout ABCG2+/ABCB5+ double-positive limbal epithelial stem cells by CRISPR/Cas9-mediated genome editing.PloS one · 2019Article
- TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China.Scientific reports · 2017Article
- Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy.International journal of ophthalmology · 2017Article
- Genetic analysis ofMolecular vision · 2016Article
- Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies.Annals of laboratory medicine · 2015Article
- TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2014Article
- A Case Report of Successful Cataract Surgery in Theil-Behnke Corneal Dystrophy: A Visual Rehabilitation for the Patient.Case reports in ophthalmologyArticle
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate the clinical and genetic features of Korean patients with corneal dystrophies associated with mutations in the human transforming growth factor-β-induced (TGFBI) gene.
methodsIn this study, 387 subjects (71 families and 89 individuals - 268 patients having TGFBI corneal dystrophies and 119 normal relatives) were assessed. All subjects underwent a complete ophthalmologic evaluation, including biomicroscopic inspection and dilated fundus examination. As a control, 100 individuals without corneal disease were selected from the general population. The polymerase chain reaction (PCR) and direct sequencing were used to screen for mutations in TGFBI.
resultsAll subjects recruited exhibited a range of corneal dystrophies, including Thiel-Behnke corneal dystrophy (TBCD, R555Q; 6 families and 4 individuals), granular corneal dystrophy type 2 (GCD2, R124H; 61 families and 80 individuals), lattice corneal dystrophy (LCD; 4 families and 5 individuals; 7 with type 1 [R124C], and 2 with a variant [L527R, P542R]). The disease showed an autosomal dominant inheritance pattern in all families.
conclusionsR124H in GCD2 was the most common mutation. GCD1 and Reis-Bucklers corneal dystrophy were not found. In the GCD2 patients there were a large number of laser refractive surgery-induced corneal opacities. A spontaneous R124H mutation was confirmed in an already mutated allele that resulted in a change from a heterozygous into a homozygous form. Also, a novel mutation, P527R, was identified in LCD.
Indexed as
Identifiers
22876129PMC3413419W2103164659What 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.