机构：[1]Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Department of Laboratory Medicine and School of Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China四川省人民医院[2]Institute of Chengdu Biology, and Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China四川省人民医院[3]Center of Information in Biomedicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China[4]Department of Ophthalmology,Beijing Tongren Hospital,Capital Medical University,Beijing,China临床科室眼科首都医科大学附属北京同仁医院首都医科大学附属同仁医院眼科(未分亚科)
Objectives USH2A encodes for usherin, a basement membrane protein in the inner ear and retina. USH2A can cause retinitis pigmentosa (RP) with or without hearing loss. The aim of this study was to detect USH2A mutations in a Chinese cohort of 75 small RP families and 10 Usher syndrome families. Methods We performed a direct Sanger sequencing analysis of the USH2A gene to identify mutations for this cohort. Results We identified a total of eight mutations in four of the 75 small RP families (5.3%) and two mutations in one of the 10 Usher families (10%); all families were detected to have compound heterozygous mutations. In families with nonsyndromic RP, we identified the compound heterozygous mutations p.Pro4818Leuand p.Leu2395Hisfs*19 in family No. 19114, p.Arg4493His and p.His1677Glnfs*15 in family No.19162, c.8559-2A> G and p.Arg1549* in family No.19123 and p.Ser5060Pro and p.Arg34Leufs*41 in family No.19178. We also identified the heterozygous mutations p.Arg3719His and p.Cys934Trp in family No.19124, which was the Usher syndrome family. These mutations were predicted to be harmful by SIFT, PROVEAN, Mutation Taster or PolyPhen-2. Conclusions Our results revealed six novel mutations in the USH2A gene in a Chinese population, which is beneficial for the clinical use of genetic testing of USH2A in patients with autosomal-recessive or sporadic RP and Usher syndrome.
基金：
National key research and development program (2016YFC0905200 (ZY)), the
National Natural Science Foundation of China (81170883 (ZY),
81430008 (Z.Y.), 81300802 (LH), 81670895 (LH), 81271048 (JY);
the Department of Science and Technology of Sichuan Province,
China (2014SZ0169, 2015SZ0052 (Z.Y.), 2015JQO057 (LH),
2016HH0072 (LH), 17QNJJ0062 (LH), 2015SZ0060 (YL) and
2013JY0195 (LH).
第一作者机构：[1]Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Department of Laboratory Medicine and School of Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China[2]Institute of Chengdu Biology, and Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China[3]Center of Information in Biomedicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China
共同第一作者：
通讯作者：
通讯机构：[1]Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Department of Laboratory Medicine and School of Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China[2]Institute of Chengdu Biology, and Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China[3]Center of Information in Biomedicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China
推荐引用方式(GB/T 7714)：
Huang Lulin,Mao Yao,Yang Jiyun,et al.Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population[J].EYE.2018,32(10):1608-1614.doi:10.1038/s41433-018-0130-3.
APA：
Huang, Lulin,Mao, Yao,Yang, Jiyun,Li, Yuanfeng,Li, Yang&Yang, Zhenglin.(2018).Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.EYE,32,(10)
MLA：
Huang, Lulin,et al."Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population".EYE 32..10(2018):1608-1614
