Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region
Journal Title: Turkish Journal of Ophthalmology - Year 2020, Vol 50, Issue 2
Abstract
Objectives: Granular corneal dystrophies (GCD) are characterized by small, discrete, sharp-edged, grayish-white opacities in the corneal stroma. Among the genes responsible for the development of GCD, the most strongly related gene is transforming growth factor beta-induced (TGFBI), located in the 5q31.1 locus. Studies show that R124H in exon 4 and R555W in exon 12 are hot-spot mutations in the TGFBI gene that lead to GCD development. In this study, we aimed to investigate these two hot-spot mutations in exons 4 and 12 of the TGFBI gene and other possible mutations in the same regions, which code important functional regions of the protein, in Turkish families with GCD and to determine the relationship between the mutations and disease and related phenotypes. Materials and Methods: The study included 16 individuals diagnosed with GCD type 1 (GCD1), 11 of these patients’ healthy relatives, and 28 unrelated healthy individuals. DNA was obtained from peripheral blood samples taken from each individual and polymerase chain reaction was used to amplify target gene regions. Genotyping studies were done by sequence analysis. Results: The R124S mutation in exon 4 of TGFBI was not detected in the patients or healthy individuals in our study. However, all individuals diagnosed as having GCD1 were found to be heterozygous carriers of the R555W mutation in exon 12 of TGFBI. This mutation was not detected in healthy family members or control individuals unrelated to these families. In addition, we detected the silent mutation F540F in exon 12 and c.32924 G>A substitution in an intronic region of the gene in a few patients and healthy individuals. Conclusion: Our study strongly supports the association of GCD1 with R555W mutation in exon 12 region of the TGFBI gene, as reported in the literature.
Authors and Affiliations
Fatma Malkondu, Hilal Arıkoğlu, Dudu Erkoç Kaya, Banu Bozkurt, Fehmi Özkan
Keywords
Related Articles
- EP ID EP684435
- DOI 10.4274/tjo.galenos.2019.55770
- Views 247
- Downloads 0
Posterior Scleritis as a Paraneoplastic Syndrome in Colon Cancer: A Case Report
This study presents a rare case of unilateral posterior scleritis as an ophthalmic manifestation of a paraneoplastic syndrome. A 61-year-old man presented to our department complaining of gradual worsening of vision in h...
Efficacy of Topical Brinzolamide Treatment in Posterior Microphthalmos-Related Macular Cystoid Lesions: A Case Series
The aim of this study was to report the outcome of topical brinzolamide 1% treatment on macular cystoid lesions resembling retinoschisis in 4 patients diagnosed with posterior microphthalmia. The medical records of 4 pat...
Unintentional Staining of the Anterior Vitreous with Trypan Blue During Cataract Surgery
During phacoemulsification and intraocular lens (IOL) implantation surgery, the trypan blue dye used to stain the anterior capsule passed into vitreous cavity and stained the anterior capsule and anterior vitreous in 6 p...
The Effect of Inferior Oblique Muscle Z-Myotomy in Patients with Primary Inferior Oblique Overaction
Objectives: To investigate the surgical results of the inferior oblique muscle Z-myotomy in patients with inferior oblique muscle overaction (IOOA). Materials and Methods: The medical records of patients who had undergo...
Reply to Letter to the Editor
No summary