Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy

doi:10.1089/gtmb.2019.0049

CORC > 成都生物研究所 > 中国科学院成都生物研究所 > 国家天然药物工程技术研究中心 > 天然产物研究

	Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy
	Yuan, Ye 4; Xu, Huijuan 2,3; Zhang, Shanshan 3; Zhang, Xiang 1; Zhang, Lin 3; Yang, Zhenglin 2,3,4
刊名	GENETIC TESTING AND MOLECULAR BIOMARKERS
	2019
卷号	23 期号:10 页码:722-727
关键词	mutation FEVR TSPAN12
ISSN号	1945-0265
DOI	10.1089/gtmb.2019.0049
产权排序	3
文献子类	Article
英文摘要	Background: Familial exudative vitreoretinopathy (FEVR, OMIM 133780), characterized by incomplete retinal vascular development and pathological neovascularization, is a severe inherited retinal disorder. Mutations in 10 genes have been reported to be associated with FEVR, but this still leaves similar to 50% of FEVR cases to be genetically explained. Purpose: The purpose of this study was to identify novel FEVR-causing mutations and explore the causative mutations in Chinese FEVR families. Methods: Whole-exome sequencing was performed to analyze the genomic DNA of the probands from 121 Chinese FEVR families. Sanger sequencing was carried out to verify all identified mutations. Luciferase assays were used to test the activity of a mutant protein in the Norrin-beta-catenin signaling pathway. Results: Four novel heterozygous TSPAN12 (Tetraspanin 12) mutations, including two single-base substitution mutations and two small-deletion mutations, were identified in these FEVR families: c.1A>G (p.0), c.614G>A (p.G205D), c.695delT (p.V232Gfs7), and c.833_842del (p.L278Qfs25). Conclusion: This study revealed the causative mutations in four Chinese FEVR families and identified four novel FEVR-causing mutations, thus expanding the mutation spectrum of FEVR in the Chinese population.
学科主题	Research/laboratory Medicine & Medical Technology
URL标识	查看原文
WOS关键词	VASCULAR DEVELOPMENT ; NORRIN ; FRIZZLED-4 ; DISEASE ; LRP5
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:000486328200001
内容类型	期刊论文
源URL	[http://210.75.237.14/handle/351003/30490]
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.Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Ophthalmol, Shanghai, Peoples R China 2.Chinese Acad Sci, Chengdu Inst Biol, Chengdu, Sichuan, Peoples R China; 3.Univ Elect Sci & Technol China, Sichuan Acad Med Sci and Sichuan Peoples Hosp, Sch Med,Key Lab Human Dis Gene Study, First Ring Rd,West 2, Chengdu 610072, Sichuan, Peoples R China; 4.Chengdu Univ Tradit Chinese Med, Coll Med Technol, 37 Twelve Bridge Rd, Chengdu 610075, Sichuan, Peoples R China;
推荐引用方式 GB/T 7714	Yuan, Ye,Xu, Huijuan,Zhang, Shanshan,et al. Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy[J]. GENETIC TESTING AND MOLECULAR BIOMARKERS,2019,23(10):722-727.
APA	Yuan, Ye,Xu, Huijuan,Zhang, Shanshan,Zhang, Xiang,Zhang, Lin,&Yang, Zhenglin.(2019).Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy.GENETIC TESTING AND MOLECULAR BIOMARKERS,23(10),722-727.
MLA	Yuan, Ye,et al."Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy".GENETIC TESTING AND MOLECULAR BIOMARKERS 23.10(2019):722-727.