IR@PKUHSC  > 北京大学第三临床医学院  > 眼科
学科主题临床医学
A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family
Du, Wei1; Bu, Juan1; Dong, Jiamei1,2; Jia, Yanlei; Li, Jing3; Liang, Chen1; Si, Shancheng1; Wang, Lejin1
刊名MOLECULAR VISION
2011-10-22
17期:297-99页:2765-2768
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Biochemistry & Molecular Biology ; Ophthalmology
资助者National Natural Science Foundation ; National Natural Science Foundation
研究领域[WOS]Biochemistry & Molecular Biology ; Ophthalmology
关键词[WOS]INFANTILE NYSTAGMUS ; MISSENSE MUTATION ; MOTOR NYSTAGMUS ; GENE
英文摘要

Purpose: To screen mutations in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked idiopathic congenital nystagmus (ICN).

Methods: It has been reported that FRMD7 mutations account for approximately 47% of X-linked nystagmus in Chinese patients. We collected 5 ml of blood samples from members of a family with X-linked ICN and 100 normal controls. Mutations in FRMD7 were determined by sequencing PCR products.

Results: We identified a previously unreported 4 bp deletion in FRMD7 (c.1486-1489 del TTTT) in a Chinese family. The mutation co-segregated with the disease phenotype in patients and female carriers, while it was not detected in other relatives or in the 100 normal controls.

Conclusions: Our results expand the spectrum of FRMD7 mutations causing ICN, and further confirm the role of FRMD7 in the pathogenesis of ICN. Direct sequencing of FRMD7 could be used as a diagnostic testing of idiopathic congenital nystagmus.

语种英语
所属项目编号30950007
资助者National Natural Science Foundation ; National Natural Science Foundation
WOS记录号WOS:000296244100003
引用统计
被引频次:6[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/56563
专题北京大学第三临床医学院_眼科
作者单位1.CPC, Cent Comm, Party Sch, Dept Cardiol, Beijing, Peoples R China
2.Beijing Ji Shui Tan Hosp, Dept Ophthalmol, Beijing, Peoples R China
3.Peking Univ, Hosp 3, Dept Ophthalmol, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Du, Wei,Bu, Juan,Dong, Jiamei,et al. A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family[J]. MOLECULAR VISION,2011,17(297-99):2765-2768.
APA Du, Wei.,Bu, Juan.,Dong, Jiamei.,Jia, Yanlei.,Li, Jing.,...&Wang, Lejin.(2011).A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family.MOLECULAR VISION,17(297-99),2765-2768.
MLA Du, Wei,et al."A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family".MOLECULAR VISION 17.297-99(2011):2765-2768.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Du, Wei]的文章
[Bu, Juan]的文章
[Dong, Jiamei]的文章
百度学术
百度学术中相似的文章
[Du, Wei]的文章
[Bu, Juan]的文章
[Dong, Jiamei]的文章
必应学术
必应学术中相似的文章
[Du, Wei]的文章
[Bu, Juan]的文章
[Dong, Jiamei]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。