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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

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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.
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