title: Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia.
abstract: OBJECTIVE
  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.
authors.affiliation: Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, SaudiArabia. abuamero@gmail.com
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
authors.forename: Hatem
authors.initials: H
authors.lastname: Kalantan
authors.forename: Abdulrahman M
authors.initials: AM
authors.lastname: Al-Muammar
mesh_terms: D001483:Base Sequence; D016022:Case-Control Studies; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007640:Keratoconus / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012529:Saudi Arabia
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; C491583:VSX1 protein, human