Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing [Genetics]

Conclusions.
Our results provide additional evidence to support the idea that mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2.

Source: Investigative Ophthalmology - January 13, 2015 Category: Opthalmology Authors: Jiang, D., Li, J., Xiao, X., Li, S., Jia, X., Sun, W., Guo, X., Zhang, Q. Tags: Genetics Source Type: research