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学科主题: 临床医学
题名:
A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene
作者: Tian, Xin; Fujiki, Keiko; Zhang, Yan; Murakami, Akira; Li, Qin; Kanai, Atsushi; Wang, Wei; Hao, Yansheng; Ma, Zhizhong
刊名: AMERICAN JOURNAL OF OPHTHALMOLOGY
发表日期: 2007-09-01
卷: 144, 期:3, 页:473-475
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Ophthalmology
研究领域[WOS]: Ophthalmology
英文摘要:

PURPOSE: To characterize the molecular defect in the TGFBI gene in a Chinese family affected with an atypical lattice corneal dystrophy.

DESIGN: Case report and experimental study.

METHODS: Molecular genetic analysis was performed on the DNA extracted from peripheral leucocytes from a Chinese family with atypical lattice corneal dystrophy. Fifty normal unrelated subjects of Chinese origin were used as controls. All exons of the TGFBI gene were amplified by polymerase chain reaction and directly sequenced.

RESULTS: Bilateral, symmetrical, ridgy round pattern of opacities with uneven surfaces and thin lattice lines were noted in the proband. Analysis of exon 14 revealed a heterozygous T to A transition on codon 625. The mutation was not detected in the unaffected family member and 50 unaffected individuals.

CONCLUSIONS: The novel TGFBI gene mutation (V625D) is associated with an early,onset variant of lattice corneal dystrophy. This case highlights the utility of molecular genetic analysis in differentiating corneal dystrophies associated with an atypical phenotype from nondystrophic conditions.

语种: 英语
WOS记录号: WOS:000249411900034
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/54742
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.Juntendo Univ, Sch Med, Dept Ophthalmol, Tokyo 113, Japan
2.Jilin Univ, Hosp 2, Dept Ophthalmol, Jilin, Peoples R China
3.Peking Univ, Hosp 3, Dept Ophthalmol, Beijing 100871, Peoples R China
4.Jilin Univ, China Japan Union Hosp, Dept Ophthalmol, Jilin, Peoples R China

Recommended Citation:
Tian, Xin,Fujiki, Keiko,Zhang, Yan,et al. A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene[J]. AMERICAN JOURNAL OF OPHTHALMOLOGY,2007,144(3):473-475.
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