83
Views
0
CrossRef citations to date
0
Altmetric
Research Reports

Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa

, , , , , , , & show all
Pages 147-152 | Received 23 Aug 2023, Accepted 09 Dec 2023, Published online: 29 Jan 2024

References

  • Liu W, Liu S, Li P, Yao K. Retinitis pigmentosa: progress in molecular pathology and biotherapeutical strategies. Int J Mol Sci. 2022;23(9):4883. doi:10.3390/ijms23094883.
  • Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ. Non-syndromic retinitis pigmentosa. Prog Retin Eye Res. 2018;66:157–186. doi:10.1016/j.preteyeres.2018.03.005.
  • Tsang SH, Sharma T. Retinitis pigmentosa (non-syndromic). Adv Exp Med Biol. 2018;1085:125–130. doi:10.1007/978-3-319-95046-4_25.
  • Tsang SH, Sharma T. Autosomal dominant retinitis pigmentosa. Adv Exp Med Biol. 2018;1085:69–77. doi:10.1007/978-3-319-95046-4_15.
  • Dryja TP, McGee TL, Hahn LB, Cowley GS, Olsson JE, Reichel E, Sandberg MA, Berson EL. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 1990;323(19):1302–7. doi:10.1056/nejm199011083231903.
  • Sung CH, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, Heckenlively JR, Nowakowski R, Fishman G, Gouras P, Nathans J. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA. 1991;88(15):6481–5. doi:10.1073/pnas.88.15.6481.
  • Zhuang J, Cao Z, Zhu Y, Liu L, Tong Y, Chen X, Wang Y, Lu C, Ma X, Yang J. Mutation screening of crystallin genes in Chinese families with congenital cataracts. Mol Vis. 2019;25:427–37.
  • Cao Z, Zhu Y, Liu L, Wu S, Liu B, Zhuang J, Tong Y, Chen X, Xie Y, Nie K, et al. Novel mutations in HSF4 cause congenital cataracts in Chinese families. BMC Med Genet. 2018;19(1):150. doi:10.1186/s12881-018-0636-3.
  • Yang J. Novel human pathological mutations. Gene symbol: RHO. Disease: Retinitis pigmentosa. Hum Genet. 2009;126(2):336.
  • Li Q, Wang K. InterVar: clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines. Am J Hum Genet. 2017;100(2):267–80. doi:10.1016/j.ajhg.2017.01.004.
  • Luo H, Xiao X, Li S, Sun W, Yi Z, Wang P, Zhang Q. Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants. Exp Eye Res. 2021;203:108405. doi:10.1016/j.exer.2020.108405.
  • Gao FJ, Li JK, Chen H, Hu FY, Zhang SH, Qi YH, Xu P, Wang DD, Wang LS, Chang Q, et al. Genetic and clinical findings in a large cohort of Chinese patients with suspected Retinitis Pigmentosa. Ophthalmology. 2019;126(11):1549–56. doi:10.1016/j.ophtha.2019.04.038.
  • Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, et al. Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. J Med Genet. 2019;56(10):662–70. doi:10.1136/jmedgenet-2018-105691.
  • Xiao T, Xie Y, Zhang X, Xu K, Zhang X, Jin ZB, Li Y. Variant profiling of a large cohort of 138 Chinese families with autosomal dominant retinitis pigmentosa. Front Cell Dev Biol. 2020;8:629994. doi:10.3389/fcell.2020.629994.
  • Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, et al. Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. Hum Genet. 2014;133(10):1255–71. doi:10.1007/s00439-014-1460-2.
  • Daiger SP, Bowne SJ, Sullivan LS, Blanton SH, Weinstock GM, Koboldt DC, Fulton RS, Larsen D, Humphries P, Humphries MM, et al. Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol. 2014;801:123–9.
  • Coussa RG, Chakarova C, Ajlan R, Taha M, Kavalec C, Gomolin J, Khan A, Lopez I, Ren H, Waseem N, et al. Genotype and phenotype studies in autosomal dominant retinitis pigmentosa (adRP) of the French Canadian founder population. Invest Ophthalmol Visual Sci. 2015;56(13):8297–305. doi:10.1167/iovs.15-17104.
  • Ziviello C, Simonelli F, Testa F, Anastasi M, Marzoli SB, Falsini B, Ghiglione D, Macaluso C, Manitto MP, Garre C, et al. Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. J Med Genet. 2005;42(7):e47. doi:10.1136/jmg.2005.031682.
  • Van Cauwenbergh C, Coppieters F, Roels D, De Jaegere S, Flipts H, De Zaeytijd J, Walraedt S, Claes C, Fransen E, Van Camp G, et al. Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families. PLoS One. 2017;12(1):e0170038. doi:10.1371/journal.pone.0170038.
  • Roshandel D, Rafati M, Khorami S, Novin Baheran N, Jalali S, Tabatabaie R, Rezai S, Ahmadieh H, Ghaffari SR. Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa. Int Ophthalmol. 2019;39(11):2523–31. doi:10.1007/s10792-019-01099-4.
  • Athanasiou D, Aguila M, Bellingham J, Li W, McCulley C, Reeves PJ, Cheetham ME. The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy. Prog Retin Eye Res. 2018;62:1–23. doi:10.1016/j.preteyeres.2017.10.002.
  • Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, et al. Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One. 2013;8(11):e78496. doi:10.1371/journal.pone.0078496.
  • Macke JP, Davenport CM, Jacobson SG, Hennessey JC, Gonzalez-Fernandez F, Conway BP, Heckenlively J, Palmer R, Maumenee IH, Sieving P, et al. Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Am J Hum Genet. 1993;53(1):80–9.
  • Jose PF-S, Blanco-Kelly F, Corton M, Trujillo-Tiebas MJ, Gimenez A, Avila-Fernandez A, Garcia-Sandoval B, Lopez-Molina MI, Hernan I, Carballo M, et al. Prevalence of rhodopsin mutations in autosomal dominant retinitis pigmentosa in Spain: clinical and analytical review in 200 families. Acta Ophthalmol. 2015;93(1):e38–44. doi:10.1111/aos.12486.
  • Sanchez B, Borrego S, Chaparro P, Rueda T, Lopez F, Antinolo G. A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa. Hum Mutat. 1996;7(2):180. doi:10.1002/humu.1380070202.
  • Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1992;1(3):209–13. doi:10.1038/ng0692-209.
  • Kartasasmita A, Fujiki K, Iskandar E, Sovani I, Fujimaki T, Murakami A. A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa. Ophthalmic Genet. 2011;32(1):57–63. doi:10.3109/13816810.2010.535892.
  • Roman-Sanchez R, Wensel TG, Wilson JH. Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay. Exp Eye Res. 2016;145:444–9. doi:10.1016/j.exer.2015.09.013.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.