Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia

[摘要] Purpose: To screen the visual systemhomebox 1 (VSX1) gene in Saudi Arabian keratoconus patients. Methods: We sequenced the entire codingregion, exon-intron boundaries in clinically confirmed keratoconuspatients (n=55) and 50 ethnically matched healthy controls. All casesand controls were unrelated. Results: Sequencing VSX1revealed the presence of five nucleotide changes, 3 of which werenon-coding (g.8326 G>A, g.10945 G>T, and g.11059 A>C) and 2were synonymous-coding sequence changes (g.5053 G>T and g.8222A>G). All five sequence changes were benign polymorphisms with noapparent clinical significance. Conclusions: In our keratoconus cohort,no pathogenic VSX1 mutation(s) were identified.

[学科分类] 生物化学/生物物理