Mutations in the Zinc Finger Protein Gene,ZNF469, Contribute to the Pathogenesis of Keratoconus
Investigative Ophthalmology & Visual Science2014Vol. 55(9), pp. 5629–5629
Citations Over TimeTop 10% of 2014 papers
Abstract
Rare missense mutations in ZNF469, predicted to be pathogenic, occurred heterozygously, at a frequency of 23% in a keratoconus population. ZNF469 is associated with CCT in GWAS and is therefore likely to play a role in the synthesis and/or organization of corneal collagen fibers. The pathogenic changes observed either genetically predispose toward a "thin" cornea, which then becomes keratoconic, or are directly pathogenic.
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