scholarly journals Comprehensive Molecular Diagnosis of a Large Cohort of Japanese Retinitis Pigmentosa and Usher Syndrome Patients by Next-Generation Sequencing

2014 ◽  
Vol 55 (11) ◽  
pp. 7369 ◽  
Author(s):  
Maho Oishi ◽  
Akio Oishi ◽  
Norimoto Gotoh ◽  
Ken Ogino ◽  
Koichiro Higasa ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Molecular Diagnosis ◽  
Usher Syndrome ◽  
Large Cohort ◽  
Next Generation ◽  
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.

scholarly journals Targeted next generation sequencing for molecular diagnosis of Usher syndrome

2014 ◽  
Vol 9 (1) ◽  
Author(s):  
María J Aparisi ◽  
Elena Aller ◽  
Carla Fuster-García ◽  
Gema García-García ◽  
Regina Rodrigo ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Usher Syndrome ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

PLoS ONE ◽  
2012 ◽  
Vol 7 (8) ◽  
pp. e43799 ◽  
Author(s):  
Danilo Licastro ◽  
Margherita Mutarelli ◽  
Ivana Peluso ◽  
Kornelia Neveling ◽  
Nienke Wieskamp ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Usher Syndrome ◽  
Next Generation ◽  
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

scholarly journals Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Qi Zhang ◽  
Mingchu Xu ◽  
Jennifer D. Verriotto ◽  
Yumei Li ◽  
Hui Wang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Molecular Diagnosis ◽  
Next Generation ◽  
Generation Sequencing
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