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Oncotarget. 2017 May 23;8(21):35176-35183. doi: 10.18632/oncotarget.17052.

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

Author information

1
BGI-Shenzhen, Shenzhen, China.
2
Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
3
Key Laboratory of Optoelectronic Devices and Systems of Ministry of Education and Guangdong Province, College of Optoelectronic Engineering, Shenzhen University, Shenzhen, China.
4
School of Bioscience and Bioengineering, South China University of Technology, Guangzhou, China.
5
Casey Eye Institute Molecular Diagnostic Laboratory, Portland, Oregon, USA.
6
BGI Education Center, University of Chinese Academy of Sciences, Shenzhen, China.
7
Department of Applied Biology with Chemical Technology, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong.
8
School of Basic Medical Sciences, Zhejiang University, Hangzhou, China.
9
Functional Genomics Center, Department of Pathology & Laboratory Medicine, University of Rochester Medical Center, West Henrietta, New York, USA.
10
School of Ophthalmology & Optometry, Shenzhen University, Shenzhen, China.

Abstract

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.

KEYWORDS:

Leber's congenital amaurosis; gene panel; novel mutation; retinitis pigmentosa; targeted next generation sequencing

PMID:
28456785
PMCID:
PMC5471044
DOI:
10.18632/oncotarget.17052
[Indexed for MEDLINE]
Free PMC Article

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