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Novel Frizzled-4 Gene Mutations in Chinese Patients With Familial Exudative Vitreoretinopathy
Jia, Li-Yun1; Li, Xiao-Xin1; Yu, Wen-Zhen1; Zeng, Wo-tan2; Liang, Chen2
刊名ARCHIVES OF OPHTHALMOLOGY
2010-10-01
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
WOS记录号WOS:000282844000014
项目编号30901638
资助机构National Natural Science Foundation of China
引用统计
被引频次:13[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/400002259/52939
专题北京大学第二临床医学院_眼科
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
推荐引用方式
GB/T 7714
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.
APA Jia, Li-Yun,Li, Xiao-Xin,Yu, Wen-Zhen,Zeng, Wo-tan,&Liang, Chen.(2010).Novel Frizzled-4 Gene Mutations in Chinese Patients With Familial Exudative Vitreoretinopathy.ARCHIVES OF OPHTHALMOLOGY,128(10),1341-1349.
MLA Jia, Li-Yun,et al."Novel Frizzled-4 Gene Mutations in Chinese Patients With Familial Exudative Vitreoretinopathy".ARCHIVES OF OPHTHALMOLOGY 128.10(2010):1341-1349.
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