TGFBI gene mutations in Brazilian patients with corneal dystrophy

• Published in: Eye (London) Vol. 21; no. 5; pp. 587 - 590
• Main Authors: SOLARI, H. P, VENTURA, M. P, PEREZ, A. B. A, SALLUM, J. M. F, BURNIER, M. N, BELFORT, R
• Format: Journal Article
• Language: English
• Published: Basingstoke Nature Publishing Group 01.05.2007
• Subjects: Base Sequence; Biological and medical sciences; Corneal Dystrophies, Hereditary - genetics; Diseases of cornea, anterior segment and sclera; DNA Mutational Analysis - methods; Extracellular Matrix Proteins - genetics; Humans; Medical sciences; Miscellaneous; Molecular Sequence Data; Mutation; Ophthalmology; Polymerase Chain Reaction - methods; Transforming Growth Factor beta - genetics; South America; Brazil; America; Human; Eye disease; Gene; Corneal dystrophy; Keratopathy; Mutation; Ophthalmology; TGFBI gene; Anterior segment disease; corneal dystrophies
• ISSN: 0950-222X; 1476-5454
• DOI: 10.1038/sj.eye.6702264

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. 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 TGFBIgene were amplified by polymerase chain reaction followed by direct sequencing on both strands. Five different mutations in the TGFBIgene were found in the probands. We identified the following mutations: lattice corneal dystrophy--R124C and A546T; Reis-Bücklers 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. This is the first report of mutations in the TGFBIgene in a series of Brazilian patients with corneal dystrophy. The findings indicate that TGFBIgene screening should be considered in the diagnosis of corneal dystrophy.