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
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2014-01-15 | |
DOI | 10.1371/journal.pone.0085752 |
卷 | 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 | |
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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