Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia

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 unrelat...

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Detalles Bibliográficos
Autores principales: Abu-Amero, Khaled K., Kalantan, Hatem, Al-Muammar, Abdulrahman M.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3056127/
https://www.ncbi.nlm.nih.gov/pubmed/21403853
Descripción
Sumario: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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