基本信息来源于合作网站,原文需代理用户跳转至来源网站获取       
摘要:
AIM: To identify the potentially pathogenic gene variants that contributes to the etiology of strabismus.METHODS: A Chinese pedigree with strabismus was collected and the exomes of two affected individuals were sequenced using the next-generation sequencing technology. The resulting variants from exome sequencing were filtered by subsequent bioinformatics methods and the candidate mutation was verified as heterozygous in the affected proposita and her mother by sanger sequencing.RESULTS: Whole exome sequencing and filtering identified a nonsynonymous mutation c.434G-T transition in paired box 3(PAX3) in the two affected individuals,which were predicted to be deleterious by more than 4 bioinformatics programs. This altered amino acid residue was located in the conserved PAX domain of PAX3. This gene encodes a member of the PAX family of transcription factors,which play critical roles during fetal development. Mutations in PAX3 were associated with Waardenburg syndrome with strabismus.CONCLUSION:Our results report that the c.434G-T mutation(p.R145L) in PAX3 may contribute to strabismus,expanding our understanding of the causally relevant genes for this disorder.
推荐文章
State of rare earth elements in the rare earth deposits of Northwest Guizhou, China
Kaolinite
Clay rocks
Rare earth deposits
Element existence state
Information extraction
Northwest Guizhou Province
基于S3C44BOX处理器的VxWorks中断设计
VxWorks
S3C44BOX
中断处理
中断服务程序
Distribution of rare earth elements of granitic regolith under the influence of climate
Rare earth elements
Granitic regolith
Weathering
Ce anomaly
Eu anomaly
内容分析
关键词云
关键词热度
相关文献总数  
(/次)
(/年)
文献信息
篇名 Identification of rare paired box 3 variant in strabismus by whole exome sequencing
来源期刊 国际眼科杂志:英文版 学科 医学
关键词
年,卷(期) 2017,(8) 所属期刊栏目
研究方向 页码范围 1223-1228
页数 6页 分类号 R77
字数 语种
DOI
五维指标
传播情况
(/次)
(/年)
引文网络
引文网络
二级参考文献  (0)
共引文献  (0)
参考文献  (0)
节点文献
引证文献  (0)
同被引文献  (0)
二级引证文献  (0)
2017(0)
  • 参考文献(0)
  • 二级参考文献(0)
  • 引证文献(0)
  • 二级引证文献(0)
引文网络交叉学科
相关学者/机构
期刊影响力
国际眼科杂志:英文版
月刊
2222-3959
西安市友谊东路269号
出版文献量(篇)
2720
总下载数(次)
2
总被引数(次)
0
论文1v1指导