ArticleAnnals of laboratory medicine2015
Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies.
Article in Annals of laboratory medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases.Current issues in molecular biology · 2024Article
- Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2.Korean journal of ophthalmology : KJO · 2023Article
- Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2.Scientific reports · 2021Article
- Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.International journal of molecular sciences · 2021Article
- Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.BMC medical genomics · 2021Article
- Prevalence of granular corneal dystrophy type 2-relatedMolecular vision · 2021Article
- Mutation-Independent Allele-Specific Editing by CRISPR-Cas9, a Novel Approach to Treat Autosomal Dominant Disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
- TGF-β1 enhanced myocardial differentiation through inhibition of the Wnt/β-catenin pathway with rat BMSCs.Iranian journal of basic medical sciences · 2020Article
- A pathogenic variant in the transforming growth factor beta I (Iranian journal of basic medical sciences · 2020Article
- Identification of a Heterozygous Mutation in theJournal of ophthalmology · 2019Article
- Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy.International journal of ophthalmology · 2017Article
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Authors and funding
5 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in the transforming growth factor β-induced gene (TGFBI) are major causes of genetic corneal dystrophies (CDs), which can be grouped into TGFBI CDs. Although a few studies have reported the clinical and genetic features of Korean patients with TGFBI CD, no data are available regarding the frequency and spectrum of TGFBI mutations in a consecutive series of Korean patients with clinically diagnosed CDs.
methodsPatients with any type of CD, who underwent both ophthalmologic examination and TGFBI gene analysis by Sanger sequencing at a tertiary care hospital in Seoul, Korea from 2006 to 2013, were enrolled in this study.
resultsAmong a total of 89 patients, 77 (86.5%) were diagnosed as having clinical TGFBI CD. Seventy-three out of 74 patients (98.6%) with granular CD type 2 (GCD2), had the p.R124H mutation. Of particular note, one patient with rapidly progressive CD had the p.R124H mutation as well as a novel nonsense variant with unknown clinical significance (p.A179*). In three patients with lattice CD type 1 (LCD1), one known mutation (p.R124C) and two novel variants (p.L569Q and p.T621P) in the TGFBI gene were identified.
conclusionsThis study provides epidemiological insight into CDs in a Korean population and reaffirms that GCD2 is the most common TGFBI CD phenotype and that p.R124H is the only mutation identified in patients with GCD2. In addition, we broaden the spectrum of TGFBI mutations by identifying two novel missense variants in patients with LCD1.
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