Author/Authors :
Nejabat, Mahmood Department of Ophthalmology - Poostchi Eye Research Center - Shiraz University of Medical Sciences, Shiraz , Naghash, Payam Department of Ophthalmology - Poostchi Eye Research Center - Shiraz University of Medical Sciences, Shiraz , Dastsooz, Hassan Department of Medical Genetics - School of Medicine - Shiraz University of Medical Sciences, Shiraz , Mohammadi, Sanaz , Alipour, Mohsen , Fardaei, Majid Department of Medical Genetics - School of Medicine - Shiraz University of Medical Sciences, Shiraz
Abstract :
Purpose: To investigate mutations of visual system homeobox 1 (VSX1) and superoxide dismutase 1 (SOD1)
in 20 patients with keratoconus in the south of Iran.
Methods: Twenty patients with keratoconus who had a positive familial history were enrolled in this
study and gave informed consent for DNA analysis. Genomic DNA was extracted from peripheral blood
lymphocytes. Polymerase chain reaction (PCR) was carried out to amplify exon 2 of SOD1 and its exon‑intron
boundary for the detection of a seven‑base deletion in intron 2 of SOD1, and also all five exons of VSX1 and
their exon‑intron boundaries. Amplified samples were then subjected to direct DNA sequencing.
Results: Sequencing data were compared against reference sequences using NCBI basic local alignment search
tool (BLAST), which revealed that our patients had no mutations in SOD1 and VSX1. Two single‑nucleotide
polymorphisms (SNPs), namely in VSX1 (rs58752432 and rs59089167) were found in six patients.
Conclusion: Mutations in VSX1 and SOD1 genes associated with keratoconus were not identified in our
patients. Therefore, it will be necessary to investigate other chromosomal loci for potential causal mutations
of keratoconus using next generation sequencing (NGS) methods in our population.
