Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing

doi:10.1371/journal.pone.0095528

科研成果详情

题名	Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing
作者	Zhang, Xiao 1,2,3; Ge, Xianglian1,2,3; Shi, Wei 4; Huang, Ping 5; Min, Qingjie 6; Li, Minghan1,2,3; Yu, Xinping1,2,3; Wu, Yaming7; Zhao, Guangyu 8; Tong, Yi 8; Jin, Zi-Bing1,2,3; Qu, Jia1,2,3; Gu, Feng1,2,3
发表日期	2014-04-24
发表期刊	PLOS ONE 影响因子和分区
语种	英语
原始文献类型	Article
其他关键词	CONE-ROD DYSTROPHY ; ABCA4 ABCR GENE ; MACULAR DEGENERATION ; RETINITIS-PIGMENTOSA ; FRAMESHIFT MUTATION ; PROM1 GENE ; SPECTRUM ; CHROMOSOME-4 ; EXOME ; MAPS
摘要	Stargardt Disease (STGD) is the commonest genetic form of juvenile or early adult onset macular degeneration, which is a genetically heterogeneous disease. Molecular diagnosis of STGD remains a challenge in a significant proportion of cases. To address this, seven patients from five putative STGD families were recruited. We performed capture next generation sequencing (CNGS) of the probands and searched for potentially disease-causing genetic variants in previously identified retinal or macular dystrophy genes. Seven disease-causing mutations in ABCA4 and two in PROM1 were identified by CNGS, which provides a confident genetic diagnosis in these five families. We also provided a genetic basis to explain the differences among putative STGD due to various mutations in different genes. Meanwhile, we show for the first time that compound heterozygous mutations in PROM1 gene could cause cone-rod dystrophy. Our findings support the enormous potential of CNGS in putative STGD molecular diagnosis.
资助项目	Chinese National Program on Key Basic Research Project (973 Program) [2013CB967502]; Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81201181/H1818]; Zhejiang provincial & Ministry of Health research fund for medical sciences [WKJ2013-2-023]; Wenzhou Medical College [QTJ12011]
出版者	PUBLIC LIBRARY SCIENCE
出版地	SAN FRANCISCO
ISSN	1932-6203
卷号	9 期号:4 页码:e95528.
DOI	10.1371/journal.pone.0095528
页数	9
WOS类目	Multidisciplinary Sciences
WOS研究方向	Science & Technology - Other Topics
WOS记录号	WOS:000335505000023
收录类别	SCIE ; PUBMED ; SCOPUS
URL	查看原文
PubMed ID	24763286
PMC记录号	PMC3999032
SCOPUSEID	2-s2.0-84899730670
通讯作者地址	[Gu, Feng]Wenzhou Med Univ, Hosp Eye, Sch Ophthalmol & Optometry, State Key Lab Cultivat Base, Wenzhou, Zhejiang, Peoples R China.
Scopus学科分类	Multidisciplinary
引用统计	被引频次：28[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/8558
专题	眼视光学院（生物医学工程学院）、附属眼视光医院发展规划处（高教研究所）附属第一医院_眼科基因组医学研究院
通讯作者	Gu, Feng
作者单位	1.Wenzhou Med Univ, Hosp Eye, Sch Ophthalmol & Optometry, State Key Lab Cultivat Base, Wenzhou, Zhejiang, Peoples R China; 2.Minist Hlth, Key Lab Vis Sci, Wenzhou, Zhejiang, Peoples R China; 3.Zhejiang Prov Key Lab Ophthalmol & Optometry, Wenzhou, Zhejiang, Peoples R China; 4.Capital Med Univ, Beijing Childrens Hosp, Dept Ophthalmol, Beijing, Peoples R China; 5.Wenzhou Med Univ, Dept Dev & Planning, Wenzhou, Zhejiang, Peoples R China; 6.Wenzhou Med Univ, Inst Genom Med, Wenzhou, Zhejiang, Peoples R China; 7.Wenzhou Med Univ, Affiliated Hosp 1, Dept Ophthalmol, Wenzhou, Zhejiang, Peoples R China; 8.Fuzhou Southeastern Eye Hosp, Fuzhou, Peoples R China
第一作者单位	眼视光学院（生物医学工程学院）、附属眼视光医院
通讯作者单位	眼视光学院（生物医学工程学院）、附属眼视光医院
第一作者的第一单位	眼视光学院（生物医学工程学院）、附属眼视光医院
推荐引用方式 GB/T 7714	Zhang, Xiao,Ge, Xianglian,Shi, Wei,et al. Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing[J]. PLOS ONE,2014,9(4):e95528..
APA	Zhang, Xiao., Ge, Xianglian., Shi, Wei., Huang, Ping., Min, Qingjie., ... & Gu, Feng. (2014). Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing. PLOS ONE, 9(4), e95528..
MLA	Zhang, Xiao,et al."Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing".PLOS ONE 9.4(2014):e95528..