References
- Berger W, Kloeckener-Gruissem B, Neidhardt J.The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res. 2010;29(5):335–75.doi:https://doi.org/10.1016/j.preteyeres.2010.03.004.
- O’Neal TB, Luther EE. Retinitis pigmentosa. Treasure Island (FL): StatPearls; 2020.
- Mabuchi H, Fujii H, Calin G, Alder H, Negrini M, Rassenti L, Kipps TJ, Bullrich F, Croce CM.Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel candidate genes for leukemogenesis at chromosome 13q14, a region commonly deleted in B-cell chronic lymphocytic leukemia. Cancer Res. 2001;61(7):2870–77.
- Zhou X, Munger K.Clld7, a candidate tumor suppressor on chromosome 13q14, regulates pathways of DNA damage/repair and apoptosis. Cancer Res. 2010;70(22):9434–43.doi:https://doi.org/10.1158/0008-5472.CAN-10-1960.
- Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, et al. Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination. Am J Hum Genet. 2016;99(2):470–80.doi:https://doi.org/10.1016/j.ajhg.2016.06.017.
- Plafker KS, Singer JD, Plafker SM.The ubiquitin conjugating enzyme, UbcM2, engages in novel interactions with components of cullin-3 based E3 ligases. Biochemistry. 2009;48(15):3527–37.doi:https://doi.org/10.1021/bi801971m.
- Plafker KS, Plafker SM.The ubiquitin-conjugating enzyme UBE2E3 and its import receptor importin-11 regulate the localization and activity of the antioxidant transcription factor NRF2. Mol Biol Cell. 2015;26(2):327–38.doi:https://doi.org/10.1091/mbc.E14-06-1057.
- Huang Z, Zhang D, Chen SC, Thompson JA, McLaren T, Lamey T, De Roach JN, McLenachan S, Chen FK.Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations. Stem Cell Res. 2019;40:101549. doi:https://doi.org/10.1016/j.scr.2019.101549.
- Yang J, Xiao X, Sun W, Li S, Jia X, Zhang Q.Variants in RCBTB1 are associated with autosomal recessive retinitis pigmentosa but not autosomal dominant FEVR. Curr Eye Res. 2021 Jun; 46(6) ;839–844.doi:https://doi.org/10.1080/02713683.2020.1842457.
- Wu JH, Liu JH, Ko YC, Wang CT, Chung YC, Chu KC, Liu TT, Chao HM, Jiang YJ, Chen SJ, et al. Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. Hum Mol Genet. 2016;25(8):1637–47.doi:https://doi.org/10.1093/hmg/ddw041.
- Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, et al. Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med. 2015;17(4):253–61.doi:https://doi.org/10.1038/gim.2014.172.
- Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405–24.doi:https://doi.org/10.1038/gim.2015.30.
- Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–43.doi:https://doi.org/10.1038/s41586-020-2308-7.
- Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M.CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 2019;47(D1):D886–D94.doi:https://doi.org/10.1093/nar/gky1016.
- Kumar P, Henikoff S, Ng PC.Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(7):1073–81.doi:https://doi.org/10.1038/nprot.2009.86.
- Adzhubei I, Jordan DM, Sunyaev SR.Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013;76. Chapter 7:Unit7 20. doi:https://doi.org/10.1002/0471142905.hg0720s76.
- Schwarz JM, Cooper DN, Schuelke M, Seelow D.MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11(4):361–62.doi:https://doi.org/10.1038/nmeth.2890.
- Jumper J, Evans R, Pritzel A, Green T, Figurnov M, Ronneberger O, Tunyasuvunakool K, Bates R, Zidek A, Potapenko A, et al. Highly accurate protein structure prediction with AlphaFold. Nature. 2021;596(7873):583–89.doi:https://doi.org/10.1038/s41586-021-03819-2.
- Reichel E, Bruce AM, Sandberg Ma, Berson EL.An electroretinographic and molecular genetic study of X-linked cone degeneration. Am J Ophthalmol. 1989;108(5):540–47.doi:https://doi.org/10.1016/0002-9394(89)90431-5.
- gnomAD. Variant co-occurence. [accessed Oct 27 2021]. https://gnomad.broadinstitute.org/variant-cooccurrence?dataset=gnomad_r2_1&variant=13-50126354-G-A&variant=13-50123614-G-A.
- Huang Z, Zhang D, Thompson JA, Jamuar SS, Roshandel D, Jennings L, Mellough C, Charng J, Chen SC, McLaren TL, et al. Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy. Ophthalmic Genet. 2021;1–10. doi:https://doi.org/10.1080/13816810.2021.1966053.
- Soumplis V, Sergouniotis PI, Robson AG, Michaelides M, Moore AT, Holder GE, Webster AR.Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration). Acta Ophthalmol. 2013;91(3):e191–5.doi:https://doi.org/10.1111/aos.12010.
- Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Heon E.The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration. Retina. 2012;32(8):1643–51.doi:https://doi.org/10.1097/IAE.0b013e318240a574.
- Jauregui R, Cho A, Oh JK, Tanaka AJ, Sparrow JR, Tsang SH.Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65. Cold Spring Harb Mol Case Stud. 2020;6(1):a004952.doi:https://doi.org/10.1101/mcs.a004952.
- Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993;3(3):213–18.doi:https://doi.org/10.1038/ng0393-213.
- Renner AB, Fiebig BS, Weber BH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U.Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. Am J Ophthalmol. 2009;147(3):518–30 e1.doi:https://doi.org/10.1016/j.ajo.2008.09.007.
- Cremers FPM, Lee W, Collin RWJ, Allikmets R.Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations. Prog Retin Eye Res. 2020;79:100861. doi:https://doi.org/10.1016/j.preteyeres.2020.100861.
- Lee DH, Amanat S, Goff C, Weiss LM, Said JW, Doan NB, Sato-Otsubo A, Ogawa S, Forscher C, Koeffler HP.Overexpression of miR-26a-2 in human liposarcoma is correlated with poor patient survival. Oncogenesis. 2013;2:e47. doi:https://doi.org/10.1038/oncsis.2013.10.
- Himori N, Yamamoto K, Maruyama K, Ryu M, Taguchi K, Yamamoto M, Nakazawa T.Critical role of Nrf2 in oxidative stress-induced retinal ganglion cell death. J Neurochem. 2013;127(5):669–80.doi:https://doi.org/10.1111/jnc.12325.
- Sachdeva MM, Cano M, Handa JT.Nrf2 signaling is impaired in the aging RPE given an oxidative insult. Exp Eye Res. 2014;119:111–14. doi:https://doi.org/10.1016/j.exer.2013.10.024.
- Vasireddy V, Jablonski MM, Khan NW, Wang XF, Sahu P, Sparrow JR, Ayyagari R.Elovl4 5-bp deletion knock-in mouse model for Stargardt-like macular degeneration demonstrates accumulation of ELOVL4 and lipofuscin. Exp Eye Res. 2009;89(6):905–12.doi:https://doi.org/10.1016/j.exer.2009.07.021.
- Illing ME, Rajan RS, Bence NF, Kopito RR.A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system. J Biol Chem. 2002;277(37):34150–60.doi:https://doi.org/10.1074/jbc.M204955200.
- Huang Z, Zhang D, Chen SC, Jennings L, Carvalho LS, Fletcher S, Chen FK, McLenachan S.Gene replacement therapy restores RCBTB1 expression and cilium length in patient-derived retinal pigment epithelium. J Cell Mol Med. 2021;25(21):10020–27.doi:https://doi.org/10.1111/jcmm.16911.
- Xiong W, Garfinkel AE M, Li Y, Benowitz LI, Cepko CL.NRF2 promotes neuronal survival in neurodegeneration and acute nerve damage. J Clin Invest. 2015;125(4):1433–45.doi:https://doi.org/10.1172/JCI79735.
- Lee SY, Usui S, Zafar AB, Oveson BC, Jo YJ, Lu L, Masoudi S, Campochiaro PA.N-Acetylcysteine promotes long-term survival of cones in a model of retinitis pigmentosa. J Cell Physiol. 2011;226(7):1843–49.doi:https://doi.org/10.1002/jcp.22508.
- Campochiaro PA, Iftikhar M, Hafiz G, Akhlaq A, Tsai G, Wehling D, Lu L, Wall GM, Singh MS, Kong X.Oral N-acetylcysteine improves cone function in retinitis pigmentosa patients in phase I trial. J Clin Invest. 2020;130(3):1527–41.doi:https://doi.org/10.1172/JCI132990.