Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population

doi:10.1038/srep19432

	Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population
	Zhang, DD; Zhu, XJ (reprint author), Hosp Univ Elect Sci & Technol China, Sichuan Prov Lab Human Dis Gene Study, Inst Lab Med, Chengdu, Peoples R China.; Yang, ZL; Zhu, XJ; Lu, F; Yin, YB; Zhang, HB; Li, YF; Lin, Y; Zhang, L
刊名	SCIENTIFIC REPORTS
	2016
卷号	6 页码:19432（1-10）
DOI	10.1038/srep19432
产权排序	6
文献子类	Article
英文摘要	Retinitis pigmentosa (RP) is a rare heterogeneous genetic retinal dystrophy disease, and despite years of research, known genetic mutations can explain only approximately 60% of RP cases. We sought to identify the underlying genetic mutations in a cohort of fourteen Indian autosomal recessive retinitis pigmentosa (arRP) families and 100 Indian sporadic RP cases. Whole-exome sequencing (WES) was performed on the probands of the arRP families and sporadic RP patients, and direct Sanger sequencing was used to confirm the causal mutations identified by WES. We found that the mutations of EYS are likely pathogenic mutations in two arRP families and eight sporadic patients. Specifically, we found a novel pair of compound heterozygous mutations and a novel homozygous mutation in two separate arRP families, and found two novel heterozygous mutations in two sporadic RP patients, whereas we found six novel homozygous mutations in six sporadic RP patients. Of these, one was a frameshift mutation, two were stop-gain mutations, one was a splicing mutation, and the others were missense mutations. In conclusion, our findings expand the spectrum of EYS mutations in RP in the Indian population and provide further support for the role of EYS in the pathogenesis and clinical diagnosis of RP.
学科主题	Science & Technology - Other Topics
资助项目	Zhu, Xianjun/0000-0002-2531-7552
语种	英语
资助机构	National Natural Science Foundation of China [81170883, 81430008, 81271007, 81470668, 81100693, 81570848, 81300802, 8140043, 81271049, 81470667] ; National Natural Science Foundation of China [81170883, 81430008, 81271007, 81470668, 81100693, 81570848, 81300802, 8140043, 81271049, 81470667] ; Department of Science and Technology of Sichuan Province [2012SZ0219, 2014SZ0169, 2015SZ0052, 2015SZ0060, 2014JQ0023, 2014FZ0122, 16CXTD0066, 2015JZ0004] ; Department of Science and Technology of Sichuan Province [2012SZ0219, 2014SZ0169, 2015SZ0052, 2015SZ0060, 2014JQ0023, 2014FZ0122, 16CXTD0066, 2015JZ0004] ; Department of Health of Sichuan Province [130145] ; Department of Health of Sichuan Province [130145] ; National Natural Science Foundation of China [81170883, 81430008, 81271007, 81470668, 81100693, 81570848, 81300802, 8140043, 81271049, 81470667] ; National Natural Science Foundation of China [81170883, 81430008, 81271007, 81470668, 81100693, 81570848, 81300802, 8140043, 81271049, 81470667] ; Department of Science and Technology of Sichuan Province [2012SZ0219, 2014SZ0169, 2015SZ0052, 2015SZ0060, 2014JQ0023, 2014FZ0122, 16CXTD0066, 2015JZ0004] ; Department of Science and Technology of Sichuan Province [2012SZ0219, 2014SZ0169, 2015SZ0052, 2015SZ0060, 2014JQ0023, 2014FZ0122, 16CXTD0066, 2015JZ0004] ; Department of Health of Sichuan Province [130145] ; Department of Health of Sichuan Province [130145]
内容类型	期刊论文
源URL	[http://210.75.237.14/handle/351003/28209]
专题	成都生物研究所_天然产物研究
通讯作者	Zhu, XJ (reprint author), Hosp Univ Elect Sci & Technol China, Sichuan Prov Lab Human Dis Gene Study, Inst Lab Med, Chengdu, Peoples R China.
推荐引用方式 GB/T 7714	Zhang, DD,Zhu, XJ ,Yang, ZL,et al. Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population[J]. SCIENTIFIC REPORTS,2016,6:19432（1-10）.
APA	Zhang, DD.,Zhu, XJ .,Yang, ZL.,Zhu, XJ.,Lu, F.,...&Di, YA.(2016).Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.SCIENTIFIC REPORTS,6,19432（1-10）.
MLA	Zhang, DD,et al."Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population".SCIENTIFIC REPORTS 6(2016):19432（1-10）.