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Case Reports

Novel ATF6 homozygous variant in a Chinese patient with achromatopsia

, , , , , & show all
Pages 153-158 | Received 14 Nov 2023, Accepted 19 Feb 2024, Published online: 29 Feb 2024

References

  • Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M. The cone dysfunction syndromes. Br J Ophthalmol. 2016;100(1):115–21. doi:10.1136/bjophthalmol-2014-306505.
  • Hirji N, Aboshiha J, Georgiou M, Bainbridge J, Michaelides M. Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options. Ophthalmic Genet. 2018;39(2):149–57. doi:10.1080/13816810.2017.1418389.
  • Michaelides M, Hunt DM, Moore AT. The cone dysfunction syndromes. Br J Ophthalmol. 2004;88(2):291–7. doi:10.1136/bjo.2003.027102.
  • Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, et al. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet. 2000;9(14):2107–16. doi:10.1093/hmg/9.14.2107.
  • Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet. 1998;19(3):257–9. doi:10.1038/935.
  • Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadalà M, Jacobson SG, Wissinger B. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002;71(2):422–5. doi:10.1086/341835.
  • Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC, Lukowski R, et al. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012;91(3):527–32. doi:10.1016/j.ajhg.2012.07.006.
  • Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, et al. A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci USA. 2009;106(46):19581–6. doi:10.1073/pnas.0907720106.
  • Ansar M, Santos-Cortez RL, Saqib MA, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, et al. Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet. 2015;134(9):941–50. doi:10.1007/s00439-015-1571-4.
  • Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, et al. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat Genet. 2015;47(7):757–65. doi:10.1038/ng.3319.
  • Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, et al. Characterization of retinal structure in ATF6-associated achromatopsia. Invest Ophthalmol Vis Sci. 2019;60(7):2631–40. doi:10.1167/iovs.19-27047.
  • Lee EJ, Chiang WJ, Kroeger H, Bi CX, Chao DL, Skowronska-Krawczyk D, Mastey RR, Tsang SH, Chea L, Kim K, et al. Multiexon deletion alleles of ATF6 linked to achromatopsia. JCI Insight. 2020;5(7). doi:10.1172/jci.insight.136041.
  • Xu M, Gelowani V, Eblimit A, Wang F, Young MP, Sawyer BL, Zhao L, Jenkins G, Creel DJ, Wang K, et al. ATF6 is mutated in early onset photoreceptor degeneration with macular involvement. Invest Ophthalmol Vis Sci. 2015;56(6):3889–95. doi:10.1167/iovs.15-16778.
  • Skorczyk-Werner A, Chiang WC, Wawrocka A, Wicher K, Jarmuż-Szymczak M, Kostrzewska-Poczekaj M, Jamsheer A, Płoski R, Rydzanicz M, Pojda-Wilczek D, et al. Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene. Eur J Hum Genet. 2017;25(11):1210–6. doi:10.1038/ejhg.2017.131.
  • Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, et al. Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease. Am J Hum Genet. 2017;100(1):75–90. doi:10.1016/j.ajhg.2016.12.003.
  • Patel N, Alkuraya H, Alzahrani SS, Nowailaty SR, Seidahmed MZ, Alhemidan A, Ben-Omran T, Ghazi NG, Al-Aqeel A, Al-Owain M, et al. Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies. Clin Genet. 2018;94(6):554–63. doi:10.1111/cge.13426.
  • Sun W, Li S, Xiao X, Wang P, Zhang Q. Genotypes and phenotypes of genes associated with achromatopsia: a reference for clinical genetic testing. Mol Vis. 2020;26:588–602.
  • Holtan JP, Selmer KK, Heimdal KR, Bragadóttir R. Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge. Acta Ophthalmol. 2020;98(3):286–95. doi:10.1111/aos.14218.
  • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754–60. doi:10.1093/bioinformatics/btp324.
  • Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R. The sequence alignment/map format and SAMtools. Bioinformatics. 2009;25(16):2078–9. doi:10.1093/bioinformatics/btp352.
  • Ritter M, Arno G, Ba-Abbad R, Holder GE, Webster AR. Macular maldevelopment in ATF6-mediated retinal dysfunction. Ophthalmic Genet. 2019;40(6):564–9. doi:10.1080/13816810.2019.1706749.
  • Liu W, Chen J, Li T, Sun X. Conducting gene therapy clinical trials based on natural history studies for inherited retinal diseases in Chinese population. Adv Ophthalmol Pract Res. 2023;3(1):6–8. doi:10.1016/j.aopr.2022.10.001.
  • Sarvani C, Sireesh D, Ramkumar KM. Unraveling the role of ER stress inhibitors in the context of metabolic diseases. Pharmacol Res. 2017;119:412–21. doi:10.1016/j.phrs.2017.02.018.
  • Walter P, Ron D. The unfolded protein response: from stress pathway to homeostatic regulation. Science. 2011;334(6059):1081–6. doi:10.1126/science.1209038.
  • Wang M, Kaufman RJ. Protein misfolding in the endoplasmic reticulum as a conduit to human disease. Nature. 2016;529(7586):326–35. doi:10.1038/nature17041.
  • Chan P, Stolz J, Kohl S, Chiang WC, Lin JH. Endoplasmic reticulum stress in human photoreceptor diseases. Brain Res. 2016;1648(Pt B):538–41. doi:10.1016/j.brainres.2016.04.021.
  • Kroeger H, Grandjean JMD, Chiang WJ, Bindels DD, Mastey R, Okalova J, Nguyen A, Powers ET, Kelly JW, Grimsey NJ, et al. ATF6 is essential for human cone photoreceptor development. Proc Natl Acad Sci USA. 2021;118(39). doi:10.1073/pnas.2103196118.
  • Lee EJ, Diaz-Aguilar MS, Min H, Choi J, Valdez Duran DA, Grandjean JM, Wiseman RL, Kroeger H, Lin JH. Mitochondria and endoplasmic reticulum stress in retinal organoids from patients with vision loss. Am J Pathol. 2022;193:1721–39. doi:10.1016/j.ajpath.2022.12.002.

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