Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Signs for RP |
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Visual function | Autosomal dominant RP
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | |
Therapies under research |
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Further information |
Additional information
Reported variants are located in the C-terminal region.[1,3]
References
- Růžičková Š, Staněk D. Mutations in spliceosomal proteins and retina degeneration. RNA Biol. 2017;14(5):544-552
- Zahid S, Branham K, Schlegel D, et al. Retinal Dystrophy Gene Atlas. Springer; 2018
- Zhong Z, Yan M, Sun W, et al. Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa [published correction appears in Sci Rep. 2017 Mar 28;7:45248]. Sci Rep. 2016;6:37840
- Vaclavik V, Gaillard MC, Tiab L, Schorderet DF, Munier FL. Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene. Mol Vis. 2010;16:467-475
- Inglehearn CF, Tarttelin EE, Keen TJ, et al. A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21. J Med Genet. 1998;35(9):788-789
- Wada Y, Itabashi T, Sato H, Tamai M. Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene. Graefes Arch Clin Exp Ophthalmol. 2004;242(11):956-961