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Title: TGFBI gene mutations in Brazilian patients with corneal dystrophy
Authors: Solari, H. P.
Ventura, M. P.
Perez, A. B. A.
Sallum, J. M. R.
Burnier, M. N.
Belfort, Rubens Junior [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
McGill Univ
Keywords: corneal dystrophies
TGFBI gene
Issue Date: 1-May-2007
Publisher: Nature Publishing Group
Citation: Eye. London: Nature Publishing Group, v. 21, n. 5, p. 587-590, 2007.
Abstract: Purpose To investigate the transforming growth factor beta-induced gene ( TGFBI) mutations in Brazilian patients with corneal dystrophy and to evaluate the phenotype genotype correlation in these patients.Methods A total of 11 unrelated families were studied. the diagnosis of corneal dystrophy was based on clinical and histopathological findings. Genomic DNA was extracted from peripheral blood leucocytes, and exons 4 and 12 of the TGFBI gene were amplified by polymerase chain reaction followed by direct sequencing on both strands.Results Five different mutations in the TGFBI gene were found in the probands. We identified the following mutations: lattice corneal dystrophy - R124C and A546T; Reis-Bucklers corneal dystrophy - R555Q and R124L; granular corneal dystrophy - R555W and Avellino dystrophy - R555W. in three of the 11 studied families there was no mutation in exons 4 and 12.Conclusions This is the first report of mutations in the TGFBI gene in a series of Brazilian patients with corneal dystrophy. the findings indicate that TGFBI gene screening should be considered in the diagnosis of corneal dystrophy.
ISSN: 0950-222X
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