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Title: Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients
Authors: Huang, H
Wang, Y
Chen, HS
Chen, YH
Wu, J
Chiang, PW
Fan, N
Su, Y
Deng, JL
Chen, DN
Li, Y
Zhang, XX
Zhang, MX 
Liang, SR
Banerjee, S
Qi, M
Liu, XY
Keywords: Targeted next generation sequencing
Gene panel
Novel mutation
Retinitis pigmentosa
Leber's congenital amaurosis
Issue Date: 2017
Publisher: Impact Journals LLC
Source: Oncotarget, 2017, v. 8, no. 21, p. 35176-35183 How to cite?
Journal: Oncotarget 
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.
ISSN: 1949-2553
DOI: 10.18632/oncotarget.17052
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