ArticleMolecular vision2009
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.
Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 13 citations in OpenAlex.
- A pathogenic variant in the transforming growth factor beta I (Iranian journal of basic medical sciences · 2020Article
- TGF-β1 enhanced myocardial differentiation through inhibition of the Wnt/β-catenin pathway with rat BMSCs.Iranian journal of basic medical sciences · 2020Article
- TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.Molecular vision · 2010Article
- Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.Molecular vision · 2010Review
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify mutations within the TGFBI gene in a Chinese family with lattice corneal dystrophy type I (LCD I).
methodsGenomic DNA of three affected, four unaffected family members and 50 normal individuals was extracted from peripheral leukocytes. All exons of TGFBI were amplified by polymerase chain reaction (PCR) methods and direct sequencing was carried out for mutation analysis.
resultsA missense mutation (1565T-->A) in exon12 of TGFBI led to an amino acid substitution I522N in the TGFB-induced protein in all affected family members, but the mutation was not detected in normal subjects of the family and control individuals.
conclusionsWe conclude that the novel mutation I522N causes lattice corneal dystrophy type I in the studied family. This is the first report of the I522N mutation within TGFBI in LCD I worldwide.
Indexed as
Identifiers
19956413PMC2786890W2160246930What OpenQuestion holds
Registered trials
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