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学科主题: 临床医学
题名:
Novel Frizzled-4 Gene Mutations in Chinese Patients With Familial Exudative Vitreoretinopathy
作者: Jia, Li-Yun1; Li, Xiao-Xin1; Yu, Wen-Zhen1; Zeng, Wo-tan2; Liang, Chen2
刊名: ARCHIVES OF OPHTHALMOLOGY
发表日期: 2010-10-01
卷: 128, 期:10, 页:1341-1349
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
关键词[WOS]: NORRIE-DISEASE GENE ; FZD4 MUTATIONS ; LOCUS ; LRP5 ; RECEPTOR ; LINKAGE ; MAPS ; FEVR ; 11Q
英文摘要:

Objectives: To search for mutations in the Frizzled-4 gene (FZD4) in Chinese patients with familial exudative vitreoretinopathy (FEVR) and to delineate the mutation-associated clinical features.

Methods: Forty-eight Chinese patients with FEVR and 100 unrelated control subjects were recruited and had complete ophthalmic examinations performed. The coding regions of FZD4 were screened for mutations by polymerase chain reaction and direct sequencing. Multiple sequence alignment was conducted to evaluate the conservation of residues among different FZD4 homologs and the human Frizzled family. Genotype-phenotype correlations were also analyzed.

Results: Twelve putative disease-causing mutations were identified in total, 9 of which were novel: 1 deletion (P14fsX57), 1 nonsense mutation (S491X), and 7 missense mutations (G22E, E180K, T237R, R253C, F328S, A339T, and D470N). Three reported FZD4 mutations were also detected: H69Y, M105V, and W496X. Remarkably, 2 patients who harbored compound heterozygous mutations (H69Y with E180K or W496X) had a more severe ocular phenotype than carriers of a single H69Y mutation.

Conclusions: FZD4 mutations were responsible for FEVR in 15 of 48 Chinese patients (31.3%) in this study, similar to other ethnic groups. This study supports the highly polymorphic nature of FZD4 with a differential mutation profile in the Chinese population.

语种: 英语
所属项目编号: 30901638
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000282844000014
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52939
Appears in Collections:北京大学第二临床医学院_眼科_期刊论文

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作者单位: 1.Chinese Natl Human Genome Ctr, Beijing, Peoples R China
2.Peking Univ Peoples Hosp, Dept Ophthalmol, Key Lab Vis Loss & Restorat, Minist Educ, Beijing 100075, Peoples R China

Recommended Citation:
Jia, Li-Yun,Li, Xiao-Xin,Yu, Wen-Zhen,et al. Novel Frizzled-4 Gene Mutations in Chinese Patients With Familial Exudative Vitreoretinopathy[J]. ARCHIVES OF OPHTHALMOLOGY,2010,128(10):1341-1349.
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