Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa

doi:10.1089/gtmb.2017.0223

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	Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa
	Li, Shujin 4,5,6; Yang, Mu 4,5,6; Liu, Wenjing 5; Liu, Yuqing 5; Zhang, Lin 5; Yang, Yeming 5; Sundaresan, Periasamy 3; Yang, Zhenglin 5,6; Zhu, Xianjun 1,2,5
刊名	GENETIC TESTING AND MOLECULAR BIOMARKERS
	2018-02-01
卷号	22 期号:2 页码:109-114
关键词	targeted NGS RP1 autosomal recessive retinitis pigmentosa
ISSN号	1945-0265
DOI	10.1089/gtmb.2017.0223
产权排序	1
文献子类	Article
英文摘要	Background: Retinitis pigmentosa (RP) is a group of rare inherited retinal dystrophies that result in a progressive loss of vision. Molecular diagnosis of RP is difficult due to its phenotypic and genetic heterogeneities. Aims: To investigate causative genetic mutations in a collection of RP cases: one Indian and two Chinese families with autosomal-recessive RP and two sporadic patients with RP. Materials and Methods: A total of 163 genes, which have previously been found to be involved in inherited retinal disorders, were selected for targeted next-generation sequencing (NGS). Stringent NGS data analyses followed by confirmation using Sanger sequencing and segregation analyses were applied to evaluate all identified pathogenic mutations. Results: Four novel frameshift mutations and two compound heterozygous mutations were identified in RP1. In addition, all mutations were found to co-segregate with the disease in the three familial cases; none of the mutations were detected in control samples. Conclusion: This study expands the mutational spectrums of RP1 for RP.
学科主题	Research ; Laboratory Medicine ; Medical Technology
URL标识	查看原文
WOS关键词	FAMILIAL EXUDATIVE VITREORETINOPATHY ; GENOTYPE-PHENOTYPE CORRELATION ; ANALYSIS IDENTIFIES MUTATIONS ; GENE ; DYSTROPHY ; PROTEIN
WOS研究方向	Biochemistry & Molecular Biology ; Genetics & Heredity
语种	英语
出版者	MARY ANN LIEBERT, INC
WOS记录号	WOS:000424707900006
内容类型	期刊论文
源URL	[http://210.75.237.14/handle/351003/30343]
专题	国家天然药物工程技术研究中心_天然产物研究
作者单位	1.Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan, P.R. China. 2.Institute of Laboratory Animal Sciences, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu,Sichuan, P.R. China.; 3.Aravind Eye Hosp, Dept Genet, Aravind Med Res Fdn, Madurai, Tamil Nadu, India; 4.Univ Chinese Acad Sci, Beijing, Peoples R China; 5.Univ Elect Sci & Technol China, Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu 610072, Sichuan, Peoples R China; 6.Chinese Acad Sci, Chengdu Inst Biol, Chengdu, Sichuan, Peoples R China;
推荐引用方式 GB/T 7714	Li, Shujin,Yang, Mu,Liu, Wenjing,et al. Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa[J]. GENETIC TESTING AND MOLECULAR BIOMARKERS,2018,22(2):109-114.
APA	Li, Shujin.,Yang, Mu.,Liu, Wenjing.,Liu, Yuqing.,Zhang, Lin.,...&Zhu, Xianjun.(2018).Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.GENETIC TESTING AND MOLECULAR BIOMARKERS,22(2),109-114.
MLA	Li, Shujin,et al."Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa".GENETIC TESTING AND MOLECULAR BIOMARKERS 22.2(2018):109-114.