NYX mutations in four families with high myopia with or without CSNB1.

ABSTRACT:

Purpose

Mutations in the NYX gene are known to cause complete congenital stationary night blindness (CSNB1), which is always accompanied by high myopia. In this study, we aimed to investigate the association between NYX mutations and high myopia with or without CSNB1.

Methods

Four Chinese families having high myopia with or without CSNB1 and 96 normal controls were recruited. We searched for mutations in the NYX gene using Sanger sequencing. Further analyses of the detected variations in the available family members were performed, and the frequencies of the detected variations in 96 normal controls were determined to verify our deduction. The effect of each variation on the nyctalopin protein was predicted using online tools.

Results

Four potential pathogenic variati

SUBMITTER: Zhou L 

PROVIDER: S-EPMC4357032 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature