Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia

Khaled K Abu-Amero, Hatem Kalantan, Abdulrahman M Al-Muammar, Khaled K Abu-Amero, Hatem Kalantan, Abdulrahman M Al-Muammar

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.

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