A potentially pathogenic KDM5C variant in X-linked high myopia

Abstract

High myopia is a multifactorial ocular disease that demonstrates high genetic susceptibility and significant family aggregation. It has multiple inheritance patterns, including X-linked inheritance; however, few genetic variants associated with X-linked high myopia have been documented. Using a whole exome sequencing approach, we have identified a novel missense variant (c.A3043T: p.Arg1015Trp) in Lysine demethylase 5C (KDM5C) in a Chinese family exhibiting X-linked high myopia. The occurrence of KDM5C c.A3043T in the family was confirmed through Sanger sequencing and the pathogenicity of the variant protein was predicted by bioinformatic analysis. We propose that this report represents a potential correlation of a KDM5C variant with high myopia, which provides a new understanding of X-linked high myopia and expands the KDM5C variant spectrum.