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

190-P: High-resolution KIR genotyping on pooled samples by next generation sequencing

2009 ◽  
Vol 70 ◽  
pp. S107
Author(s):  
Martha B. Ladner ◽  
Gordon Bentley ◽  
Damian Goodridge ◽  
Henry A. Erlich ◽  
Elizabeth Trachtenberg
Keyword(s):  
Next Generation Sequencing ◽  
High Resolution ◽  
Next Generation ◽  
Pooled Samples ◽  
Generation Sequencing

scholarly journals PoolHap: Inferring Haplotype Frequencies from Pooled Samples by Next Generation Sequencing

PLoS ONE ◽  
2011 ◽  
Vol 6 (1) ◽  
pp. e15292 ◽  
Author(s):  
Quan Long ◽  
Daniel C. Jeffares ◽  
Qingrun Zhang ◽  
Kai Ye ◽  
Viktoria Nizhynska ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Haplotype Frequencies ◽  
Pooled Samples ◽  
Generation Sequencing

scholarly journals Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing

2020 ◽  
Vol 40 (1) ◽  
Author(s):  
Ling-hui Qu ◽  
Xin Jin ◽  
Yan-ling Long ◽  
Jia-yun Ren ◽  
Chuang-huang Weng ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Molecular Mechanisms ◽  
Usher Syndrome ◽  
Next Generation ◽  
Chinese Families ◽  
Targeted Next Generation Sequencing ◽  
Pathogenic Mutations ◽  
Basement Membrane Protein ◽  
Generation Sequencing

Abstract Background: The USH2A gene encodes usherin, a basement membrane protein that is involved in the development and homeostasis of the inner ear and retina. Mutations in USH2A are linked to Usher syndrome type II (USH II) and non-syndromic retinitis pigmentosa (RP). Molecular diagnosis can provide insight into the pathogenesis of these diseases, facilitate clinical diagnosis, and identify individuals who can most benefit from gene or cell replacement therapy. Here, we report 21 pathogenic mutations in the USH2A gene identified in 11 Chinese families by using the targeted next-generation sequencing (NGS) technology. Methods: In all, 11 unrelated Chinese families were enrolled, and NGS was performed to identify mutations in the USH2A gene. Variant analysis, Sanger validation, and segregation tests were utilized to validate the disease-causing mutations in these families. Results: We identified 21 pathogenic mutations, of which 13, including 5 associated with non-syndromic RP and 8 with USH II, have not been previously reported. The novel variants segregated with disease phenotype in the affected families and were absent from the control subjects. In general, visual impairment and retinopathy were consistent between the USH II and non-syndromic RP patients with USH2A mutations. Conclusions: These findings provide a basis for investigating genotype–phenotype relationships in Chinese USH II and RP patients and for clarifying the pathophysiology and molecular mechanisms of the diseases associated with USH2A mutations.

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.

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