Research Papers:

Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients

Hui Huang, Ying Wang, Huishuang Chen, Yanhua Chen, Jing Wu, Pei-Wen Chiang, Ning Fan, Yan Su, Jianlian Deng, Dongna Chen, Yang Li, Xinxin Zhang, Mengxin Zhang, Shengran Liang, Santasree Banerjee, Ming Qi and Xuyang Liu _

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Oncotarget. 2017; 8:35176-35183. https://doi.org/10.18632/oncotarget.17052

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Hui Huang1,*, Ying Wang2,3,*, Huishuang Chen1,*, Yanhua Chen1,4, Jing Wu1, Pei-Wen Chiang5, Ning Fan2, Yan Su1, Jianlian Deng1, Dongna Chen1, Yang Li1, Xinxin Zhang1,6, Mengxin Zhang7, Shengran Liang1, Santasree Banerjee1, Ming Qi1,8,9 and Xuyang Liu2,10

1BGI-Shenzhen, Shenzhen, China

2Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China

3Key Laboratory of Optoelectronic Devices and Systems of Ministry of Education and Guangdong Province, College of Optoelectronic Engineering, Shenzhen University, Shenzhen, China

4School of Bioscience and Bioengineering, South China University of Technology, Guangzhou, China

5Casey Eye Institute Molecular Diagnostic Laboratory, Portland, Oregon, USA

6BGI Education Center, University of Chinese Academy of Sciences, Shenzhen, China

7Department of Applied Biology with Chemical Technology, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong

8School of Basic Medical Sciences, Zhejiang University, Hangzhou, China

9Functional Genomics Center, Department of Pathology & Laboratory Medicine, University of Rochester Medical Center, West Henrietta, New York, USA

10School of Ophthalmology & Optometry, Shenzhen University, Shenzhen, China

*These authors have contributed equally to this work

Correspondence to:

Xuyang Liu, email: [email protected]

Ming Qi, email: [email protected]

Keywords: targeted next generation sequencing, gene panel, novel mutation, retinitis pigmentosa, Leber's congenital amaurosis

Received: October 26, 2016     Accepted: March 15, 2017     Published: April 12, 2017


As the most common inherited retinal degenerations, retinitis pigmentosa (RP) is clinically and genetically heterogeneous. Some of the RP genes are also associated with other retinal diseases, such as LCA (Leber's congenital amaurosis) and CORD (cone-rod dystrophy). Here, in our molecular diagnosis of 99 Chinese RP patients using targeted gene capture sequencing, three probands were found to carry mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA and CORD. By further clinical analysis, two probands were confirmed to be RP patients and one was confirmed to be LCA patient. These novel mutations were co-segregated with the disease phenotype in their families. Our result not only expands the mutational spectrum of the RPGRIP1 gene but also gives supports to clinical diagnosis and molecular treatment of RP patients.

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