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Novel mutation in the TGFBI gene in a patient with a late‐onset lattice corneal dystrophy
Author(s) -
OLDAK M,
SZAFLIK JP,
MAKSYM RB,
UDZIELA M,
FRANASZCZYK M,
PIOSKI R,
SZAFLIK J
Publication year - 2010
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2010.2346.x
Subject(s) - exon , missense mutation , tgfbi , genetics , gene , microbiology and biotechnology , biology , mutation , corneal dystrophy , mutant , cornea , neuroscience
Purpose To report the clinical and molecular findings in a patient with late‐onset lattice corneal dystrophy and a novel Leu565Pro mutation in the TGFBI gene. Methods The diagnosis of lattice corneal dystrophy (LCD) was performed by visualization of characteristic lesions with slit‐lamp examination and by in vivo confocal microscopy. Mutation screening of coding regions of the TGFBI gene was done by PCR amplification and direct sequencing. Results We found a novel c.1694T>C heterozygous missense mutation in exon 13 of the TGFBI gene, which predicts the substitution of a leucine for a proline at codon 565 (Leu565Pro). Sequencing of all remaining exons of the TGFBI gene did not show any alterations. Conclusion The mutant codon 565 is located at the C‐terminus in the region corresponding to the fourth fascilin domain of the TGFBI protein. The novel variant adds to a number of previously reported mutations causing lattice corneal dystrophy and located in this region.