A novel splice donor site mutation in epha2 caused congenital cataract in a chinese family
文献类型：期刊论文
| 作者 | Bu, Juan1; He, Sijie2,3; Wang, Lejin1; Li, Jiankang3; Liu, Jing1; Zhang, Xiuqing3,4,5 |
| 刊名 | Indian journal of ophthalmology
 |
| 出版日期 | 2016-05-01 |
| 卷号 | 64期号:5页码:364-368 |
| 关键词 | Autosomal dominant congenital cataract Epha2 Splice donor site mutation Whole exome sequencing |
| ISSN号 | 0301-4738 |
| DOI | 10.4103/0301-4738.185597 |
| 通讯作者 | Zhang, xiuqing(zhangxq@genomics.cn) |
| 英文摘要 | Background: congenital cataract is a rare disorder characterized by crystallin denaturation, which becomes a major cause of childhood blindness. although more than fifty pathogenic genes for congenital cataract have been reported, the genetic causes of many cataract patients remain unknown. in this study, the aim is to identify the genetic cause of a five-generation chinese autosomal dominant congenital cataract family. methods: whole exome sequencing (wes) was performed on three affected and one unaffected member of the family, known causative genes were scanned first. sanger sequencing was used to validate co-segregation of the candidate variant in the family. the impact on the transcript and amino acid sequences of the variant was further analyzed. results: we identified a novel splice donor site mutation c. 2825+1g>a in epha2 that was absent in public and in-house databases and showed co-segregation in the family. this variant resulted in an altered splice that led to protein truncation. conclusions: the mutation we identified was responsible for congenital cataract in our studied family. our findings broaden the spectrum of causative mutations in epha2 gene for congenital cataract and suggest that wes is an efficient strategy to scan variants in known causative genes for genetically heterogeneous diseases. |
| WOS关键词 | SHORT READ ALIGNMENT ; SEQUENCING DATA ; GENE ; VARIANTS ; DISEASE |
| WOS研究方向 | Ophthalmology |
| WOS类目 | Ophthalmology |
| 语种 | 英语 |
| WOS记录号 | WOS:000381287100006 |
| 出版者 | MEDKNOW PUBLICATIONS & MEDIA PVT LTD |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2375327 |
| 专题 | 中国科学院大学 |
| 通讯作者 | Zhang, Xiuqing |
| 作者单位 | 1.Peking Univ Third Hosp, Key Lab Vis Loss & Restorat, Minist Educ, Dept Ophthalmol, Beijing 100191, Peoples R China 2.Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R China 3.BGI Shenzhen, Shenzhen 518083, Peoples R China 4.Guangdong Enterprise Key Lab Human Dis Genom, Shenzhen 518083, Peoples R China 5.Shenzhen Key Lab Genom, Shenzhen 518083, Peoples R China |
| 推荐引用方式 GB/T 7714 | Bu, Juan,He, Sijie,Wang, Lejin,et al. A novel splice donor site mutation in epha2 caused congenital cataract in a chinese family[J]. Indian journal of ophthalmology,2016,64(5):364-368. |
| APA | Bu, Juan,He, Sijie,Wang, Lejin,Li, Jiankang,Liu, Jing,&Zhang, Xiuqing.(2016).A novel splice donor site mutation in epha2 caused congenital cataract in a chinese family.Indian journal of ophthalmology,64(5),364-368. |
| MLA | Bu, Juan,et al."A novel splice donor site mutation in epha2 caused congenital cataract in a chinese family".Indian journal of ophthalmology 64.5(2016):364-368. |
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来源：中国科学院大学
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