title: High-resolution analysis of DNA copy number alterations in patients with isolated sporadic keratoconus.
abstract: OBJECTIVE
  To determine whether patients with sporadic, non-familial keratoconus and no pathogenic mutations in the visual system homeobox 1 (VSX1) gene have evidence of chromosomal copy number alterations.
  
  
  METHODS
  Twenty Saudi Arabian patients with isolated keratoconus, no family history of the disease and no mutations in VSX1 were recruited. Additionally, 10 ethnically-matched healthy controls were also recruited for this study. We screened patients for chromosomal copy number aberrations using the Agilent Human Genome CGH 244A Oligo Microarray Chip.
  
  
  RESULTS
  None of the keratoconus patients screened had evidence of chromosomal copy number alterations when compared to normal ethnically matched controls.
  
  
  CONCLUSIONS
  Chromosomal deletions and/or duplications were not detected in any of the patients tested here. Other chromosomal imbalances such as translocations, inversions, and some ploidies cannot be detected by current array CGH technology and other nuclear genetic or epigenetic factors cannot be excluded as a possible contributing factor to keratoconus pathogenesis.
authors.affiliation: Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia. abuamero@gmail.com
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
authors.forename: Ali M
authors.initials: AM
authors.lastname: Hellani
authors.forename: Sameer M
authors.initials: SM
authors.lastname: Al Mansouri
authors.forename: Hatem
authors.initials: H
authors.lastname: Kalantan
authors.forename: Abdulrahman M
authors.initials: AM
authors.lastname: Al-Muammar
mesh_terms: D000328:Adult; D018912:Arabs / Q000235:genetics; D016022:Case-Control Studies; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D003315:Cornea / Q000473:pathology; D004247:DNA / Q000737:chemistry; D057890:Epigenomics; D005136:Eye Proteins / Q000032:analysis / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D018398:Homeodomain Proteins / Q000032:analysis / Q000235:genetics; D006801:Humans; D007640:Keratoconus / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D012529:Saudi Arabia; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; C491583:VSX1 protein, human; D004247:DNA