摘　要：高度近视是一种常见的眼科遗传性疾病，是导致患者视力丧失甚至失明的主要原因，其高患病率和高致盲率给广大患者的生活、工作、学习造成了极大的痛苦。在本研究中，我们收集到一个来自广西地区的三代高度近视家系，收集家系中17个成员的临床资料，抽取外周血，提取基因组DNA，应用外显子测序的方法分析所有外显子序列，运用Sanger测序在该家系中验证外显子测序的结果，发现NYX基因一个新的错义突变c.790A>T（p.N264Y）在该家系中与疾病表型共分离，在1000Genomes、ESP6500和ExAc等数据库及100例对照中，均排除该罕见突变。已有研究显示，NYX基因c.792C>G（p.N264K）突变与先天性静止性夜盲有关，表明NYX基因第264位氨基酸的不同变异可能导致不同的表型。我们的发现扩大了NYX基因的突变谱，为阐明其基因型-表型关系提供了有价值的信息。
关键词：高度近视；家系；外显子测序；NYX基因；错义突变
中图分类号：Q39                                 文献标志码：A                       DOI：10.3969/j.issn.1007-7146.2022.04.010

Abstract: Myopia is the most common visual impairment worldwide, and high myopia is the leading cause of vision loss or even blindness, the high prevalence and blindness of which predispose individuals to a great deal of pain through their whole life. In this study, we recruited a three-generations Guangxi family with high myopia. The clinical data and genome DNA of 17 people relatives of the family were collected. According to the results of whole exomes sequence, sanger sequence were applied to identifify the causative gene. A novel missense mutation c.790A>T（p.N264Y）in NYX gene was co-segregating with high myopia in this family. This mutation was absent in 100 controls and publically online available SNP databases including the 1000Genomes Project, ESP6500 and ExAc. Previous study reported a c.792C>G（p.N264K）mutation of NYX associated with congenital stationary night blindness. It is indicated that different amino acid changes at position 264 of NYX might lead to distinct phenotypes. Our finding expands the mutation spectrum of NYX and provides a useful information for further elucidation on genotype-phenotype relationships.
Key words: high myopia; family; exome sequencing; NYX gene; missense mutation
（Acta Laser Biology Sinica, 2022, 31(4): 361-367）