Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.

ABSTRACT:

Purpose

To evaluate the involvement of Visual System Homeobox 1 (VSX1), Secreted Protein Acidic and Rich in Cysteine (SPARC), Superoxide Dismutase 1 (SOD1), Lysyl Oxidase (LOX), and Tissue Inhibitor of Metalloproteinase 3 (TIMP3) in sporadic and familial keratoconus.

Methods

Mutational analysis of the five genes was performed by sequencing and fragment analysis in a large cohort of 302 Italian patients, with a diagnosis of keratoconus based on clinical examination and corneal topography. The variants identified in VSX1 and SPARC were also assessed in the available relatives of the probands.

Results

A novel mutation p.G239R and previously reported mutations were found in VSX1. Novel and already reported variants were identified in SPARC and SOD1, whose pathogenic signi

SUBMITTER: De Bonis P 

PROVIDER: S-EPMC3185016 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature