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N. Afshari, R.P. Bahadur, G.K. Klintworth; Discovery of Novel Homozygous Mutation in the TGFBI (BIGH3) Gene (V624M) in a Patient with Unilateral Lattice Corneal Dystrophy . Invest. Ophthalmol. Vis. Sci. 2004;45(13):1517.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To evaluate the TGFBI gene in a patient with unilateral lattice corneal dystrophy. Methods:We sequenced the entire coding region of the TGFBI gene in a patient with unilateral lattice corneal dystrophy, who had thick, ropy linear corneal opacities. Genomic DNA was isolated from leukocytes using standard methods. All exons of the TGFBI gene were amplified by the polymerase chain reaction, and the resultant DNA fragments were used as sequencing templates. Results: A novel homozygous nucleotide substitution of guanine for adenosine was detected at position 1870 in the TGFBI gene (V624M) in the affected individual. This alteration is predicted to change the amino acid valine to methionine at codon 624 in the transforming growth factor beta induced protein. Two single nucleotide polymorphisms (V327V and F540F) were also found in this patient. Conclusions: A novel homozygous mutation in the TGFBI gene was found in an individual with unilateral lattice corneal dystrophy.
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