Mutations in NYX of individuals with high myopia, but withoutnight blindness

[摘要] Purpose: High myopia is a common genetic variant that severelyaffects vision. Genes responsible for myopia without linked additionalfunctional defects have not been identified. Mutations in the nyctalopingene (NYX) located at Xp11.4 are responsible for a complete form ofcongenital stationary night blindness (CSNB1). High myopia is usuallyobserved in patients with CSNB1. This study was designed to test thepossibility that mutations in the NYX gene might cause high myopiawithout congenital stationary night blindness (CSNB).Methods: The genomic sequence of NYX in 52 male probands with highmyopia but without CSNB was analyzed through direct DNA sequencing.Variations in the NYX were verified by analyzing available familymembers and 232 controls.Results: Two unrelated male individuals with high myopia but withoutnight blindness were found to have novel Cys48Trp and Arg191Glnmutations in NYX. The mutations were found to be located in distinctregions, different from the locations of mutations known to causecongenital stationary night blindness with myopia (CSNB1).Conclusions: Mutations in NYX may cause high myopia without CSNB.The observations suggest that NYX may have independent effects on myopiaand night blindness.

[学科分类] 生物化学/生物物理