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Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing.

Abstract The purpose of this study was to investigate the disease-causing mutations for retinitis pigmentosa (RP) patients and function of mutations.
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Mutation

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Journal Title investigative ophthalmology & visual science
Publication Year Start




PMID- 29260190
OWN - NLM
STAT- MEDLINE
DCOM- 20171227
LR  - 20171227
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 58
IP  - 14
DP  - 2017 Dec 1
TI  - Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using
      Whole-Exome Sequencing.
PG  - 6342-6350
LID - 10.1167/iovs.17-22952 [doi]
AB  - Purpose: The purpose of this study was to investigate the disease-causing
      mutations for retinitis pigmentosa (RP) patients and function of mutations.
      Methods: We recruited RP families and sporadic RP patients, and performed
      whole-exome sequencing (WES) to screen for sequence variations. Subsequently, we 
      investigated the expression of green fluorescent protein (GFP) merged expression 
      vectors containing PRPF31 wild type (WT) and its variants. We determined protein 
      stability by cycloheximide (CHX) treatment. Results: Two frameshift variants,
      c.547delG (p.E183fs) and c.804delG (p.L268fs), and one stopgain variant,
      c.1060C>T (p.R354X), in the pre-mRNA processing factor 31 gene (PRPF31) were
      identified in three RP families. In comparison with WT, the expressions of
      GFP-fused PRPF31 (GFP-PRPF31) protein with the mutation c.547delG or c.804delG in
      HEK293 cells were significantly reduced. However, the expression of GFP-PRPF31
      containing the stopgain mutation (GFP-PRPF31sg) was increased. CHX treatment of
      HEK293 showed the GFP-PRPF31sg protein was more stable than GFP-PRPF31 WT. The WT
      protein expression was localized in the nuclei, and the mutants in both nuclei
      and cytoplasm. We screened for PRPF31 mutations in 131 sporadic RP patients by
      WES and successfully identified three novel mutations: c.G781C (p.G261R),
      c.A1373T (p.Q458L), and c.C1222T (p.R408W). Conclusions: Our study revealed novel
      mutations of PRPF31 in RP. Our results also showed that the two mutations
      (c.547delG or c.804delG) affect gene expression and GFP-PRPF31sg has increased
      protein stability.
FAU - Xiao, Xiaoqiang
AU  - Xiao X
AD  - Joint Shantou International Eye Center, Shantou University and the Chinese
      University of Hong Kong, Shantou, China.
FAU - Cao, Yingjie
AU  - Cao Y
AD  - Joint Shantou International Eye Center, Shantou University and the Chinese
      University of Hong Kong, Shantou, China.
FAU - Zhang, Zhun
AU  - Zhang Z
AD  - Joint Shantou International Eye Center, Shantou University and the Chinese
      University of Hong Kong, Shantou, China.
FAU - Xu, Yanxuan
AU  - Xu Y
AD  - Joint Shantou International Eye Center, Shantou University and the Chinese
      University of Hong Kong, Shantou, China.
FAU - Zheng, Yuqian
AU  - Zheng Y
AD  - Joint Shantou International Eye Center, Shantou University and the Chinese
      University of Hong Kong, Shantou, China.
FAU - Chen, Li Jia
AU  - Chen LJ
AD  - Joint Shantou International Eye Center, Shantou University and the Chinese
      University of Hong Kong, Shantou, China.
AD  - Department of Ophthalmology and Visual Sciences, the Chinese University of Hong
      Kong, Hong Kong, China.
FAU - Pang, Chi Pui
AU  - Pang CP
AD  - Joint Shantou International Eye Center, Shantou University and the Chinese
      University of Hong Kong, Shantou, China.
AD  - Department of Ophthalmology and Visual Sciences, the Chinese University of Hong
      Kong, Hong Kong, China.
FAU - Chen, Haoyu
AU  - Chen H
AD  - Joint Shantou International Eye Center, Shantou University and the Chinese
      University of Hong Kong, Shantou, China.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (Eye Proteins)
RN  - 0 (PRPF31 protein, human)
RN  - 147336-22-9 (Green Fluorescent Proteins)
SB  - IM
MH  - Case-Control Studies
MH  - Cells, Cultured
MH  - Exome
MH  - Eye Proteins/*genetics/metabolism
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Green Fluorescent Proteins/metabolism
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Pedigree
MH  - Retinitis Pigmentosa/*genetics/metabolism
MH  - Whole Genome Sequencing/methods
EDAT- 2017/12/21 06:00
MHDA- 2017/12/28 06:00
CRDT- 2017/12/21 06:00
PHST- 2017/12/21 06:00 [entrez]
PHST- 2017/12/21 06:00 [pubmed]
PHST- 2017/12/28 06:00 [medline]
AID - 2667030 [pii]
AID - 10.1167/iovs.17-22952 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2017 Dec 1;58(14):6342-6350. doi:
      10.1167/iovs.17-22952.