ArticleMolecular vision2010
TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.
Article in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree.International journal of ophthalmology · 2022Article
- Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.International journal of molecular sciences · 2021Article
- TGFBI and CHST6 gene analysis in Chinese stromal corneal dystrophies.International journal of ophthalmology · 2012Article
- Molecular genetics of Chinese families with TGFBI corneal dystrophies.Molecular vision · 2011Article
- Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.Molecular vision · 2011Article
- Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy.International journal of ophthalmology · 2011Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo analyze transforming growth factor beta-induced (TGFBI) gene mutations in a Chinese pedigree with Reis-Bücklers dystrophy (RBCD).
methodsIn a four-generation Chinese family with Reis-Bücklers dystrophy, six members were patients and the rest were unaffected. All members of the family underwent complete ophthalmologic examinations. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database. The sequencing results were reconfirmed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
resultsA single heterozygous C>T (R124C) point mutation was found in exon 4 of TGFBI in all six members of the pedigree affected with RBCD, but not in the unaffected members.
conclusionsWithin this pedigree, RBCD segregates with the R124C variance, which is a known mutation for lattice corneal dystrophy type I. Therefore, along with G623D and R124L, the R124C mutation in TGFBI is also found to be responsible for RBCD.
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Identifiers
20360992PMC2847680W2165054281What OpenQuestion holds
Registered trials
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