Analysis of VSX1 Variations in Brazilian Subjects with Keratoconus.

ABSTRACT:

Purpose

To screen visual system homeobox 1 (VSX1) gene in Brazilian subjects affected with keratoconus (KCN).

Methods

Seventy-three patients with KCN and 106 healthy controls were enrolled in this study. Patients were diagnosed with KCN based on eye examination and corneal topographic features according to Rabinowitz's criteria (K > 47.2, I-S > 1.4 and KISA > 100%). DNA from blood samples was extracted from donors, and the exons and exon-intron boundaries of VSX1 were sequenced. The potential impact of the identified amino acid changes was assessed with Poly-Phen2, SIFT, and PMUT analysis tools. Genotyping was confirmed by RLFP technique, which was also applied to genotype non-affected individuals.

Results

We found three non-synonymous substitutions (L68

SUBMITTER: da Silva DC 

PROVIDER: S-EPMC6058540 | biostudies-literature | 2018 Jul-Sep

REPOSITORIES: biostudies-literature