title: Analysis of the SOD1 Gene in Keratoconus Patients from Saudi Arabia.
abstract: We investigated Saudi patients with familial and sporadic Keratoconus for mutations in the Superoxide dismutase 1, soluble (SOD1) gene. We sequenced the entire coding region, exon-intron boundaries and intron 2 encompassing a 7-bp deletion in clinically confirmed Keratoconus patients (n = 55) and 100 ethnically matched healthy controls. All cases and controls were unrelated. Sequencing the SOD1 gene revealed the presence of four nucleotide changes and all were non-coding. Those were g.12035 C > A; g.13978 T > A; g.12037 G > A and g.11931 A > C with similar frequencies in patients and controls. All four sequence changes were benign polymorphisms with no apparent clinical significance. Additionally, the 7-bp deletion in intro2 reported previously, were not detected in any of our Keratocnus cohort. In our Keratoconus cohort, no pathogenic SOD1 mutation(s) was identified.
authors.affiliation: a Anterior Segment Unit, Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia .
authors.forename: Abdulrahman M
authors.initials: AM
authors.lastname: Al-Muammar
authors.affiliation: a Anterior Segment Unit, Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia .
authors.forename: Hatem
authors.initials: H
authors.lastname: Kalantan
authors.affiliation: b Ophthalmic Genetics Laboratory, Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia , and.
authors.forename: Taif Anwar
authors.initials: TA
authors.lastname: Azad
authors.affiliation: b Ophthalmic Genetics Laboratory, Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia , and.
authors.forename: Tahira
authors.initials: T
authors.lastname: Sultan
authors.affiliation: b Ophthalmic Genetics Laboratory, Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia , and.|c Department of Opthalmology , College of Medicine, University of Florida , Jacksonville , FL , USA.
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
mesh_terms: D000328:Adult; D018912:Arabs / Q000235:genetics; D005260:Female; D006801:Humans; D007640:Keratoconus / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012529:Saudi Arabia / Q000453:epidemiology; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D055815:Young Adult
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1
keywords: Keratoconus; SOD1 gene; Saudi Arabia; mutation