Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1

Abstract

High myopia is a severe ocular condition affecting ∼100 million people throughout the world. It is a common cause of blindness, and several studies have suggested it is transmitted through Mendelian traits. High myopia is clinically and genetically heterogeneous, with eight loci assigned. Most loci have not been confirmed by additional studies, and genes responsible for high myopia have not been identified. We recently studied a Chinese family with X-linked high myopia and mapped the high myopia locus to Xq25-q27.2. This linked region overlapped with that of MYP13 but was outside MYP1. © 2007 The Japan Society of Human Genetics and Springer.