Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa
文献类型：期刊论文
| 作者 | Yang, Mu1,2,3; Li, Shujin1,2,3; Liu, Wenjing3; Yang, Yeming3; Zhang, Lin3; Zhang, Shanshan3; Jiang, Zhilin3,4,5; Yang, Zhenglin1,2,3,5; Zhu, Xianjun1,2,3,4,5 |
| 刊名 | GENETIC TESTING AND MOLECULAR BIOMARKERS
 |
| 出版日期 | 2018-03-01 |
| 卷号 | 22期号:3页码:165-169 |
| 关键词 | MERTK next-generation sequencing genetics autosomal recessive retinitis pigmentosa |
| ISSN号 | 1945-0265 |
| DOI | 10.1089/gtmb.2017.0248 |
| 产权排序 | 1 |
| 文献子类 | Article |
| 英文摘要 | Background: Retinitis pigmentosa (RP) is a group of inherited retinal diseases that result in severe progressive visual impairment. Aims: The purpose of this article was to apply targeted next-generation sequencing (NGS) to identify the causative mutation in a Chinese RP family. Methods: Blood samples were collected from a Chinese proband diagnosed with RP and her family members. A total of 163 genes that have been previously found to be involved in inherited retinal diseases were selected for NGS. Rigorous NGS data analysis; Sanger sequencing validation; and segregation analysis were applied to evaluate a novel frameshift mutation. Results: Sequence analysis revealed that the proband and her affected sister both carried a novel homozygous frameshift mutation in MERTK (p.I103Nfs*4). Other family members carrying a heterozygous mutation were unaffected. This mutation was found to cosegregate with the disease phenotype in this family. This mutation was not found in 1,000 control individuals. Conclusions: The targeted NGS strategy employed provides an efficient tool for RP pathogenic gene detection. This study identified a new autosomal recessive mutation in the RP-related gene MERTK, which expands the spectrum of RP disease-causing mutations. |
| URL标识 | 查看原文 |
| WOS关键词 | ANALYSIS IDENTIFIES MUTATIONS ; MOLECULAR DIAGNOSIS ; PREVALENCE ; PHENOTYPE ; DELETION ; THERAPY ; PATIENT ; VECTOR |
| WOS研究方向 | Biochemistry & Molecular Biology ; Genetics & Heredity |
| 语种 | 英语 |
| WOS记录号 | WOS:000424707900006 |
| 出版者 | MARY ANN LIEBERT, INC |
| 源URL | [http://210.75.237.14/handle/351003/30331]  |
| 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.Chinese Acad Sci, Chengdu Inst Biol, Chengdu, Sichuan, Peoples R China; 2.Univ Chinese Acad Sci, Beijing, Peoples R China; 3.Key Laboratory for Human Disease Gene Study and Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.; 4.Sichuan Acad Med Sci, Inst Lab Anim Sci, Chengdu, Sichuan, Peoples R China; 5.Center for Informatics Medicine, University of Electronic Science and Technology of China, Chengdu, China. |
| 推荐引用方式 GB/T 7714 | Yang, Mu,Li, Shujin,Liu, Wenjing,et al. Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa[J]. GENETIC TESTING AND MOLECULAR BIOMARKERS,2018,22(3):165-169. |
| APA | Yang, Mu.,Li, Shujin.,Liu, Wenjing.,Yang, Yeming.,Zhang, Lin.,...&Zhu, Xianjun.(2018).Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa.GENETIC TESTING AND MOLECULAR BIOMARKERS,22(3),165-169. |
| MLA | Yang, Mu,et al."Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa".GENETIC TESTING AND MOLECULAR BIOMARKERS 22.3(2018):165-169. |
入库方式： OAI收割
来源：成都生物研究所
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