ArticleMolecular vision2011
The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree.BMC ophthalmology · 2015Article
- Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies.Annals of laboratory medicine · 2015Article
- Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI.International journal of ophthalmology · 2013Article
- Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.Molecular vision · 2011Article
- An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.Molecular vision · 2011Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo report the clinical and molecular features of a distinct form of transforming growth factor-β-induced (TGFBI) gene-linked corneal dystrophy exhibiting a new granular corneal dystrophy type I (CDGG1) phenotype.
methodsA complete ophthalmologic examination was performed in all individuals of a Chinese family in which autosomal dominant transmission of the disease had been observed. DNA was obtained from the peripheral blood leukocytes of each participating subject. Genetic analyses included keratin 3 (KRT3), keratin 12 (KRT12), and TGFBI polymerase chain reaction (PCR) amplification and automated nucleotide sequencing of exons from the genomic DNA.
resultsThe corneal phenotype in this pedigree was characterized by multiple bilateral dot-like, circular opacities at different corneal depths, with some of the affected individuals only having opacities in the epithelium, which is different from the typical CDGG1 phenotype. TGFBI analysis revealed a heterozygous point mutation at exon 12 (c.1663C>T) in all of the affected individuals, predicting a p.R555W missense mutation.
conclusionsThe phenotype which resulted from the TGFBI R555W mutation in this family is distinct from that observed in the typical case of CDGG1. We propose this disorder should be classified as a new phenotype of CDGG1, and this finding demonstrates the importance of gene diagnosis in the corneal dystrophies.
Indexed as
Identifiers
21264234PMC3025098W69610002What OpenQuestion holds
Registered trials
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