A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
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一个新的错义 SNRNP200 突变与中国家族中常染色体显性遗传性视网膜色素变性相关。
DOI：
10.1371/journal.pone.0045464
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发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Wang W
中科院分区：
文献类型：
--
作者：
Liu T;Jin X;Zhang X;Yuan H;Cheng J;Lee J;Zhang B;Zhang M;Wu J;Wang L;Tian G;Wang W
The SNRNP200 gene encodes hBrr2, a helicase essential for pre-mRNA splicing. Six mutations in SNRNP200 have recently been discovered to be associated with autosomal dominant retinitis pigmentosa (adRP). In this work, we analyzed a Chinese family with adRP and identified a novel missense mutation in SNRNP200. To identify the genetic defect in this family, exome of the proband was captured and sequencing analysis was performed to exclude known genetic defects and find possible pathogenic mutations. Subsequently, candidate mutations were validated in affected family members using Sanger sequencing. A novel missense mutation, c.2653C>G transition (p.Q885E), in exon 20 of SNRNP200 was identified. The mutation co-segregated with the disease phenotype over four generations and was absent in 100 normal unaffected individuals. This mutation occurs at highly conserved position in hBrr2 and is predicted to have a functional impact, suggesting that hBrr2-dependent small nuclear riboproteins (snRNPs) unwinding and spliceosome activation is important in the pathogenesis of some variants of RP.
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影响因子：
16
作者：
Pena, Vladimir;Jovin, Sina Mozaffari;Wahl, Markus C.
通讯作者：
Wahl, Markus C.
影响因子：
6.1
作者：
Wang Mei;Lin Hao-tian;Zhuo Ye-hong
通讯作者：
Zhuo Ye-hong
影响因子：
16.8
作者：
Buettner, Katharina;Nehring, Sebastian;Hopfner, Karl-Peter
通讯作者：
Hopfner, Karl-Peter
影响因子：
4.5
作者：
Kim, DH;Rossi, JJ
通讯作者：
Rossi, JJ
影响因子：
5.8
作者：
Arnold, K;Bordoli, L;Schwede, T
通讯作者：
Schwede, T