ArticleMolecular vision2008
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- 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
- Transforming growth factor β induced mutation-associated phenotype in a Chinese family exhibiting lattice corneal dystrophy.Biomedical reports · 2017Article
- Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.Molecular vision · 2012Article
- 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
- Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.Molecular vision · 2010Review
- TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.Molecular vision · 2010Article
- Corneal dystrophies.Orphanet journal of rare diseases · 2009Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeA genetic and clinical study of three unrelated Chinese pedigrees with a variable phenotype of lattice corneal dystrophy type I (LCD I).
methodsThe eyes of the patients were examined by slit lamp microscopy, and other clinical records were also collected. Genomic DNA was extracted from peripheral leukocytes of the affected patients and their family members. Exons of the transforming growth factor beta induced TGFBI gene were amplified by polymerase chain reaction and directly sequenced to verify the mutation. Fifty healthy volunteers were analyzed as normal controls.
resultsVariable atypical clinical features of LCD I were found by slit lamp microscopy in these three Chinese pedigrees. A heterozygous single base-pair transition from C to T (C417T), leading to amino acid substitution (R124C) in the encoded TGFBI protein, was detected in all of the affected patients. No mutation was found in unaffected family members and 50 normal controls.
conclusionsClinical features of Chinese patients with the same R124C mutation are quite variable even within the same family. Molecular genetic analysis of TGFBI can offer a rapid, accurate diagnosis of patients with atypical corneal dystrophies.
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18615206PMC2443752W2108408648What OpenQuestion holds
Registered trials
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