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.
Highlights
Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, affecting approximately 1 in 5,000 individuals worldwide [1, 2]
We found 2 RP patients and 1 LCA patient carrying mutations in RPGRIP1 using our panel NGS methods
Defects in either RPGRIP1 or its RPGR interacting protein probably alter a functional complex in the connecting cilia of rods and cones
Summary
Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, affecting approximately 1 in 5,000 individuals worldwide [1, 2]. RP individuals exhibit degeneration of photoreceptors or the retinal pigment epithelium (RPE) of the retina in the initial stages of the disease, followed by a progressive reduction www.impactjournals.com/oncotarget in the visual field and visual loss [3]. The clinical distinction between the subtypes of RP, is not always clear and there are largely overlapped in phenotype between RP, LCA (Leber’s congenital amaurosis), COD or CORD (cone or cone-rod dystrophy) and other retinal diseases [3]. With the development of sequencing technology, more disease-causing genes have been identified, 60 for RP, 20 for LCA and 29 for CORD respectively. 9 genes (CRB1, CRX, LRAT, PRPH2, RDH12, RPE65, SPATA7, TULP1, IMPDH1) were previously reported to be associated with both RP and LCA (RetNet). In our recent molecular screening of 99 RP patients, two RP and one LCA patients were found to carry mutated RPGRIP1, which was previously reported to be implicated in LCA and CORD [4, 5]
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