Xiao Xueshan, Jia Xiaoyun, Guo Xiangming, Li Shiqiang, Yang Zhikuan, Zhang Qingjiong
Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou, 510060, PR China.
J Hum Genet. 2006;51(7):634-40. doi: 10.1007/s10038-006-0406-5. Epub 2006 May 3.
X-linked congenital stationary night blindness (CSNB) and NYX mutation have not been reported in Chinese. Here, two Chinese families with the complete form of CSNB (CSNB1) are presented. Linkage analysis of one family mapped the disease to Xp11-Xq13 where NYX is located. Sequence analysis of NYX identified two novel mutations, c.281G>C and c.302T>C, which would result in missense changes of p.Arg94Pro and p.Ile101Thr in the encoded protein. These two mutations were not found in 96 controls. The c.281G>C mutation cosegregated with nyctalopia and myopia. Our results expand the mutation spectrum of NYX and enrich the clinical information related to NYX mutation. The importance of associated myopia with NYX mutations is discussed.
在中国，尚未有X连锁先天性静止性夜盲（CSNB）及NYX突变的相关报道。本文报道了两个患有完全型CSNB（CSNB1）的中国家系。对其中一个家系进行连锁分析，将该疾病定位于NYX所在的Xp11 - Xq13区域。对NYX进行序列分析，鉴定出两个新的突变，即c.281G>C和c.302T>C，这将导致编码蛋白中第94位精氨酸突变为脯氨酸（p.Arg94Pro）以及第101位异亮氨酸突变为苏氨酸（p.Ile101Thr）。在96名对照中未发现这两个突变。c.281G>C突变与夜盲及近视共分离。我们的研究结果扩展了NYX的突变谱，并丰富了与NYX突变相关的临床信息。文中还讨论了NYX突变相关近视的重要性。
