Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia.

ABSTRACT:

Purpose

To screen the visual system homebox 1 (VSX1) gene in Saudi Arabian keratoconus patients.

Methods

We sequenced the entire coding region, exon-intron boundaries in clinically confirmed keratoconus patients (n=55) and 50 ethnically matched healthy controls. All cases and controls were unrelated.

Results

Sequencing VSX1 revealed the presence of five nucleotide changes, 3 of which were non-coding (g.8326 G>A, g.10945 G>T, and g.11059 A>C) and 2 were synonymous-coding sequence changes (g.5053 G>T and g.8222 A>G). All five sequence changes were benign polymorphisms with no apparent clinical significance.

Conclusions

In our keratoconus cohort, no pathogenic VSX1 mutation(s) were identified.

SUBMITTER: Abu-Amero KK 

PROVIDER: S-EPMC3056127 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature