ArticleThe British journal of ophthalmology2003
H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people.
Article in The British journal of ophthalmology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 50 citations in OpenAlex.
- Corneal gene therapy: Structural and mechanistic understanding.The ocular surface · 2023Article
- An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree.Indian journal of ophthalmology · 2022Article
- TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China.Scientific reports · 2017Article
- Genetic analysis ofMolecular vision · 2016Article
- Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients.International journal of ophthalmology · 2016Article
- 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
- Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI.International journal of ophthalmology · 2013Article
- Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.Molecular vision · 2012Article
- TGFBI gene mutations in a Korean population with corneal dystrophy.Molecular vision · 2012Article
- Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.Molecular vision · 2011Article
- Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).Molecular vision · 2010Article
- Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.Molecular vision · 2010Review
- A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.Molecular vision · 2009Article
- The IC3D classification of the corneal dystrophies.Cornea · 2008Review
- A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.Molecular vision · 2008Article
- An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.Molecular vision · 2008Article
- Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.Molecular vision · 2008Article
- A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.Archives of ophthalmology (Chicago, Ill. : 1960) · 2008Article
- Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the betaigh3 gene.The British journal of ophthalmology · 2007Article
- A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.Journal of genetics · 2006Article
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Authors and funding
7 authors.
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No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
aimsMutations of the human transforming growth factor beta induced gene (TGFBI) were reported to cause lattice corneal dystrophy (LCD) in various nationalities. This study analysed the TGFBI gene in Vietnamese people with LCD.
methods13 unrelated families, including 34 patients and 21 unaffected members were examined. 50 normal Vietnamese people served as controls. Blood samples were collected. Genomic DNA was extracted from leucocytes. Analysis of TGFBI gene was performed using the polymerase chain reaction and direct sequencing. Corneal buttons were studied histopathologically.
resultsTwo clinically distinguishable forms of LCD were revealed: one was typical of LCDI; the other was characterised by the late onset, thick lattice lines, and asymmetry between two eyes. Sequencing of the TGFBI gene revealed R124C mutation in three families and H626R mutation in 10 families. Congo red staining of the H626R-LCD cornea showed amyloid deposits in the subepithelial and stromal layers.
conclusionsR124C and H626R mutations of TGFBI gene caused LCD in Vietnamese people. R124C, a common cause of LCDI in many nationalities, was relatively rare, whereas H626R reported in several white people but not yet in Asians was most common (>75%) in Vietnamese people. Since the phenotype caused by H626R represents a new variant intermediate between LCDI and LCDIIIA, we proposed to consider it as LCD type IIIB.
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