scholarly journals Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa

2013 ◽  
Vol 54 (6) ◽  
pp. 4158 ◽  
Author(s):  
Qing Fu ◽  
Feng Wang ◽  
Hui Wang ◽  
Fei Xu ◽  
Jacques E. Zaneveld ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Molecular Diagnosis ◽  
Autosomal Recessive ◽  
Chinese Patient ◽  
Next Generation ◽  
Patient Cohort ◽  
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.

Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease

Gene ◽  
2016 ◽  
Vol 591 (1) ◽  
pp. 214-226 ◽  
Author(s):  
Burhan M. Edrees ◽  
Mohammad Athar ◽  
Faisal A. Al-Allaf ◽  
Mohiuddin M. Taher ◽  
Wajahatullah Khan ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Molecular Diagnosis ◽  
Autosomal Recessive ◽  
Next Generation ◽  
Polycystic Kidney ◽  
Generation Sequencing

scholarly journals Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

2014 ◽  
Vol 134 (2) ◽  
pp. 217-230 ◽  
Author(s):  
Li Zhao ◽  
Feng Wang ◽  
Hui Wang ◽  
Yumei Li ◽  
Sharon Alexander ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Northern Ireland ◽  
Retinitis Pigmentosa ◽  
Molecular Diagnosis ◽  
Next Generation ◽  
Generation Sequencing
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