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

作者：Zhou, Lin; Li, Tuo^*; Song, Xiusheng; Li, Yin; Li, Hongyan; Dan, Handong

来源：Molecular Vision, 2015, 21: 213-223.

• STATIONARY NIGHT BLINDNESS
• HIGH-GRADE MYOPIA
• RECESSIVE HIGH MYOPIA
• GENOME-WIDE SCAN
• OCULAR REFRACTION
• SUSCEPTIBILITY LOCUS
• MOUSE MODEL
• GENE REGION
• CHROMOSOME
• LINKAGE

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 variations in the NYX gene were found in four families with high myopia with or without CSNB1. Three of the four variants were novel (c.626G>C; c.121delG; c.335T>C). The previously identified variant, c.529_530delGCinsAT, was found in an isolated highly myopic patient and an affected brother, but the other affected brother did not carry the same variation. Further linkage analyses of this family showed a coinheritance of markers at MYP1. These four mutations were not identified in the 96 normal controls.
Conclusions: Our study expands the mutation spectrum of NYX for cases of high myopia with CSNB1; however, more evidence is needed to elucidate the pathogenic effects of NYX on isolated high myopia.

• 出版日期2015-3-5
• 单位武汉大学; 恩施土家族苗族自治州中心医院