scholarly journals Next generation sequencing identified novel heterozygous nonsense mutation in CNGB1 gene associated with retinitis pigmentosa in a Chinese patient

Oncotarget ◽  
2017 ◽  
Vol 8 (51) ◽  
pp. 88345-88350 ◽  
Author(s):  
Santasree Banerjee ◽  
Junping Yao ◽  
Xinxin Zhang ◽  
Jianjun Niu ◽  
Zhongshan Chen
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Nonsense Mutation ◽  
Chinese Patient ◽  
Next Generation ◽  
Generation Sequencing

Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted Next-Generation Sequencing

2017 ◽  
Vol 27 (6) ◽  
pp. 791-796 ◽  
Author(s):  
Jianping Xiao ◽  
Xueqin Guo ◽  
Yong Wang ◽  
Mingkun Shao ◽  
Xiaoming Wei ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Sanger Sequencing ◽  
Bioinformatics Analysis ◽  
Family Members ◽  
Chinese Patient ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Targeted Ngs ◽  
Generation Sequencing

Purpose To identify disease-causing mutations in a Chinese patient with retinitis pigmentosa (RP). Methods A detailed clinical examination was performed on the proband. Targeted next-generation sequencing (NGS) combined with bioinformatics analysis was performed on the proband to detect candidate disease-causing mutations. Sanger sequencing was performed on all subjects to confirm the candidate mutations and assess cosegregation within the family. Results Clinical examinations of the proband showed typical characteristics of RP. Three candidate heterozygous mutations in 3 genes associated with RP were detected in the proband by targeted NGS. The 3 mutations were confirmed by Sanger sequencing and the deletion (c.357_358delAA) in PRPF31 was shown to cosegregate with RP phenotype in 7 affected family members, but not in 3 unaffected family members. Conclusions The deletion (c.357_358delAA) in PRPF31 was the disease-causing mutation for the proband and his affected family members with RP. To our knowledge, this is the second report of the deletion and the first report of the other 2 mutations in the Chinese population. Targeted NGS combined with bioinformatics analysis proved to be an effective molecular diagnostic tool for RP.

scholarly journals Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa

2011 ◽  
Vol 32 (6) ◽  
pp. E2246-E2258 ◽  
Author(s):  
Paola Benaglio ◽  
Terri L. McGee ◽  
Leonardo P. Capelli ◽  
Shyana Harper ◽  
Eliot L. Berson ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Next Generation ◽  
Pooled Samples ◽  
Generation Sequencing

Next-generation sequencing and its application in diagnosis of retinitis pigmentosa

2019 ◽  
Vol 40 (5) ◽  
pp. 393-402 ◽  
Author(s):  
Arash Salmaninejad ◽  
Jamshid Motaee ◽  
Mahsa Farjami ◽  
Maliheh Alimardani ◽  
Alireza Esmaeilie ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

PLoS ONE ◽  
2018 ◽  
Vol 13 (12) ◽  
pp. e0207958 ◽  
Author(s):  
Johannes Birtel ◽  
Martin Gliem ◽  
Elisabeth Mangold ◽  
Philipp L. Müller ◽  
Frank G. Holz ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Next Generation ◽  
Generation Sequencing

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities

2011 ◽  
Vol 225 (1) ◽  
pp. 12-18 ◽  
Author(s):  
Kasmintan A Schrader ◽  
Alireza Heravi-Moussavi ◽  
Paula J Waters ◽  
Janine Senz ◽  
James Whelan ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Next Generation ◽  
Rare Disorders ◽  
Skeletal Abnormalities ◽  
Generation Sequencing
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