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A.J. Aldave, V.S. Yellore, A.K. Salem, G.L. Yoo, S.A. Rayner, H. Yang, G.Y. Tang, Y. Piconell, Y.S. Rabinowitz; No VSX1 Gene Mutations Associated With Keratoconus . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5556.
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To determine whether mutations of the VSX1 gene play a pathogenetic role in the development of keratoconus (KTCN).
DNA extraction, PCR amplification, and direct sequencing of the VSX1 gene was performed in 100 unrelated individuals diagnosed with clinical and topographic features of KTCN.
Of the four previously identified presumed pathogenic mutations in the VSX1 gene (Leu17Pro, Asp144Glu, Leu159Met and Arg166Trp), only Asp144Glu was identified, in a single affected individual. Two novel single nucleotide polymorphisms (SNPs) were identified: c.53G>T (Ser6Ser) in four affected patients and c.209G>T (Pro58Pro) in two affected patients. Two previously reported SNPs were also identified: c.426C>A (Arg131Ser) in one affected patient and c.581A>G (Ala182Ala) in 51 of the 100 affected patients.
Only one of the presumed pathogenic mutations in the VSX1 gene, Asp144Glu, was identified in a single member of our cohort of affected individuals. However, as we have previously demonstrated that Asp144Glu is a non –disease causing polymorphism, the absence of pathogenic mutations in the VSX1 gene in a large number of unrelated KTCN patients indicates that other genetic factors are involved in the development of this disorder.
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