Screening for Novel LOX and SOD1 Variants in Keratoconus Patients from Brazil.

ABSTRACT:

Purpose

To investigate the presence of the variants of lysyl oxygenase (LOX) and superoxide dismutase 1 (SOD1) genes in Brazilian patients with advanced keratoconus.

Methods

Donor genomic DNA extracted from blood samples was screened for 5'UTR, exonic LOX, and SOD1 variants in a subset of 26 patients presenting with advanced keratoconus (KISA > 1000% and I-S > 2.0) by Sanger sequencing. The impact of non-synonymous amino acid changes was evaluated by SIFT, PMUT, and PolyPhen algorithms. The Mutation Taster tool was used to evaluate the potential impact of formation of new donor and acceptor splice sites in the promoter region of affected volunteers carrying sequence variants. A 7-base SOD1 deletion (IVS2 + 50del7bp) previously associated wi

SUBMITTER: Gadelha DNB 

PROVIDER: S-EPMC7151510 | biostudies-literature | 2020 Apr-Jun

REPOSITORIES: biostudies-literature