北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第三临床医学院  > 眼科  > 期刊论文
学科主题: 临床医学
题名:
A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family
作者: Du, Wei1; Bu, Juan1; Dong, Jiamei1,2; Jia, Yanlei; Li, Jing3; Liang, Chen1; Si, Shancheng1; Wang, Lejin1
刊名: MOLECULAR VISION
发表日期: 2011-10-22
卷: 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
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
项目资助者: National Natural Science Foundation
WOS记录号: WOS:000296244100003
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/56563
Appears in Collections:北京大学第三临床医学院_眼科_期刊论文

Files in This Item:

There are no files associated with this item.


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

Recommended Citation:
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.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Du, Wei]'s Articles
[Bu, Juan]'s Articles
[Dong, Jiamei]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Du, Wei]‘s Articles
[Bu, Juan]‘s Articles
[Dong, Jiamei]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace