A novel VSX1 mutation identified in an individual with keratoconus in India

PURPOSE To evaluate the possible role of the VSX1 gene in a group of patients from the Indian subcontinent with keratoconus. METHODS Molecular analysis of 66 patients with a diagnosis of keratoconus, based on clinical examination and corneal topography, was carried out. DNA extraction from peripheral blood followed by Polymerase Chain Reaction (PCR) amplification of the VSX1 gene was performed. The entire coding region and the exon-intron junctions of the VSX1 gene were analyzed by direct sequencing. RESULTS A novel change at c.525G>C, replacing amino acid glutamine at position 175 with histidine, was found in one affected individual. One of the previously reported SNPs (rs12480307) was found with equal frequency in both patients and controls. CONCLUSIONS This is the first report from the Indian subcontinent exploring the role of VSX1 in the causation of keratoconus. One novel mutation (Q175H) predicted to be a potentially damaging change was seen in an affected individual; this substantiates the importance of this gene but its precise role in disease causation needs further investigation.