IR@PKUHSC  > 北京大学第三临床医学院  > 眼科
学科主题临床医学
Novel Mutations of RPGR in Chinese Retinitis Pigmentosa Patients and the Genotype-Phenotype Correlation
Yang, Liping1; Yin, Xiaobei2; Feng, Lina1; You, Debo1; Wu, Lemeng1; Chen, Ningning1; Li, Aijun1; Li, Genlin2; Ma, Zhizhong1
刊名PLOS ONE
2014-01-15
DOI10.1371/journal.pone.0085752
9期:1
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]EXON ORF15 ; RP2 ; DYSTROPHY ; FAMILIES ; IDENTIFICATION ; DISEASE ; LOCUS ; GENE ; DEGENERATION ; CILIA
英文摘要

X-linked Retinitis Pigmentosa (XLRP) accounts for 10-20% of all RP cases, and represents the most severe subtype of this disease. Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) gene are the most common causes of XLRP, accounting for over 70-75% of all XLRP cases. In this work, we analyzed all the exons of RPGR gene with Sanger sequencing in seven Chinese XLRP families, two of these with a provisional diagnosis of adRP but without male-to-male transmission. Three novel deletions (c. 2233_34delAG; c. 2236_37delGA and c. 2403_04delAG) and two known nonsense mutations (c. 851C -> G and c. 2260G -> T) were identified in five families. Two novel deletions (c. 2233_34delAG and c. 2236_37delGA) resulted in the same frame shift (p. E746RfsX22), created similar phenotype in Family 3 and 4. The novel deletion (c. 2403_04delAG; p. E802GfsX31) resulted in both XLRP and x-linked cone-rod dystrophy within the male patients of family 5, which suggested the presence of either genetic or environmental modifiers, or both, play a substantial role in disease expression. Genotype-phenotype correlation analysis suggested that (1) both patients and female carriers with mutation in Exon 8 (Family 1) manifest more severe disease than did those with ORF15 mutations (Family 2&3& 4); (2) mutation close to downstream of ORF15 (Family 5) demonstrate the early preferential loss of cone function with moderate loss of rod function.

语种英语
所属项目编号81170877
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
WOS记录号WOS:000330235100130
Citation statistics
Cited Times:5[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/51029
Collection北京大学第三临床医学院_眼科
作者单位1.Peking Univ, Dept Ophthalmol, Key Lab Vis Loss & Restorat, Minist Educ,Hosp 3, Beijing 100871, Peoples R China
2.Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing, Peoples R China
Recommended Citation
GB/T 7714
Yang, Liping,Yin, Xiaobei,Feng, Lina,et al. Novel Mutations of RPGR in Chinese Retinitis Pigmentosa Patients and the Genotype-Phenotype Correlation[J]. PLOS ONE,2014,9(1).
APA Yang, Liping.,Yin, Xiaobei.,Feng, Lina.,You, Debo.,Wu, Lemeng.,...&Ma, Zhizhong.(2014).Novel Mutations of RPGR in Chinese Retinitis Pigmentosa Patients and the Genotype-Phenotype Correlation.PLOS ONE,9(1).
MLA Yang, Liping,et al."Novel Mutations of RPGR in Chinese Retinitis Pigmentosa Patients and the Genotype-Phenotype Correlation".PLOS ONE 9.1(2014).
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