222
Views
3
CrossRef citations to date
0
Altmetric
Case Reports

Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene

, , , &
Pages 508-511 | Received 30 Jan 2018, Accepted 30 Apr 2018, Published online: 21 May 2018

References

  • Van Huet RAC, Collin RWJ, Siemiatkowska AM, Klaver CCW, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FPM, et al. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement. Investig Ophthalmol Vis Sci. 2014;55(6):3939–53. doi:10.1167/iovs.14-14129.
  • Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Genet Couns. 2006;368(9549):1795–809.
  • Bainbridge JWB, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, Viswanathan A, Holder GE, Stockman A, Tyler N, et al. Effect of gene therapy on visual function in Leber’s congenital amaurosis. N Engl J Med. 2008;(358):2231–39. doi:10.1056/NEJMoa0802268.
  • Maguire AM, Simonelli F, Pierce EA, Pugh EN, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, et al. Safety and efficacy of gene transfer for Leber’s congenital amaurosis. N Engl J Med. 2008;358(21):2240–48. doi:10.1056/NEJMoa0802315.
  • Hauswirth WW, Aleman TS, Kaushal S, Cideciyan AV, Schwartz SB, Wang L, Conlon TJ, Boye SL, Flotte TR, Byrne BJ, et al. Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther. 2008;19(10):979–90. doi:10.1089/hum.2008.107.
  • MacLaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, Clark KR, During MJ, Cremers FPM, Black GCM, et al. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet. 2014;383(9923):1129–37. doi:10.1016/S0140-6736(13)62117-0.
  • Matsushime H, Jinno A, Takagi N, Shibuya M. A novel mammalian protein kinase gene (mak) is highly expressed in testicular germ cells at and after meiosis. Mol Cell Biol. 1990;10(5):2261–68. http://www.ncbi.nlm.nih.gov/pubmed/2183027.
  • Omori Y, Chaya T, Katoh K, Kajimura N, Sato S, Muraoka K, Ueno S, Koyasu T, Kondo M, Furukawa T. Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. Proc Natl Acad Sci U S A. 2010;107(52):22671–76. doi:10.1073/pnas.1009437108.
  • Özgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RWJ, Zonneveld MN, Beryozkin A, Banin E, Hoyng C, van den Born L, et al. Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. Am J Hum Genet. 2011;89(2):253–64. doi:10.1016/j.ajhg.2011.07.005.
  • Tucker BA, Scheetz TE, Mullins RF, DeLuca AP, Hoffmann JM, Johnston RM, Jacobson SG, Sheffield VC, Stone EM. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proc Natl Acad Sci U S A. 2011;108(34):E569–76. doi:10.1073/pnas.1108918108
  • Stone EM, Luo X, Héon E, Lam BL, Weleber RG, Halder JA, Affatigato LM, Goldberg JB, Sumaroka A, Schwartz SB, et al. Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. Investig Ophthalmol Vis Sci. 2011;52(13):9665–73. doi:10.1167/iovs.11-8527.
  • Van Huet RAC, Siemiatkowska AM, Özgül RK, Yucel D, Hoyng CB, Banin E, Blumenfeld A, Rotenstreich Y, Riemslag FCC, Den Hollander AI, et al. Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features. Acta Ophthalmol. 2015;93(1):83–94. doi:10.1111/aos.12500.
  • Kimchi A, Khateb S, Wen R, Guan Z, Obolensky A, Beryozkin A,Kurtzman S, Blumenfeld A, Pras E, Jacobson SG, et al. Nonsyndromic retinitis pigmentosa in the Ashkenazi Jewish population: Genetic and clinical aspects. Ophthalmology. 2018;125(5):725–734. doi:10.1016/j.ophtha.2017.11.014.
  • Wallis Y, Payne S, McAnulty C, Bodmer D. Practice guidelines for the evaluation of pathogenicity and the reporting of sequence variants in clinical molecular genetics. London: Association for Clinical Genetic Science; 2013. 16 p.
  • Lek M, Karczewski K, Minikel E, Samocha K, Banks E, Fennell T, O’Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285–91. doi:10.1038/nature19057.
  • Lai Y-H, Capasso JE, Kaiser R, Levin AV. Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene. Ophthalmic Genet. 2016;37(4):424–426. doi:10.3109/13816810.2015.1092046.
  • Tucker BA, Scheetz TE, Mullins RF, DeLuca AP, Hoffmann JM, Johnston RM, Jacobson SG, Sheffield VC, Stone EM. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proc Natl Acad Sci. 2011;108(34):E569–76. doi:10.1073/pnas.1108918108.
  • Batzer MA, Stoneking M, Alegria-Hartman M, Bazan H, Kass DH, Shaikh TH, Novick GE, Ioannou PA, Scheer WD, Herrera RJ. African origin of human-specific polymorphic Alu insertions. Proc Natl Acad Sci U S A. 1994;91(December):12288–92. doi:10.1073/pnas.91.25.12288.
  • Stoneking M, Fontius JJ, Clifford SL, Soodyall H, Arcot SS, Saha N, Jenkins T, Tahir MA, Deininger PL, Batzer MA. Alu insertion polymorphisms and human evolution: evidence for a larger population size in Africa. Genome Res. 1997;7:1061–71. doi:10.1101/gr.7.11.1061.
  • Venturini G, Koskiniemi-Kuendig H, Harper S, Berson EL, Rivolta C. Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry. Genet Med. 2014;17(4):285–90. doi:10.1038/gim.2014.132.
  • Mount SM. A catalogue of splice junction sequences. Nucleic Acids Res. 1982;10(21082):459–72. doi:10.1093/nar/10.2.459.
  • Ruskin B, Green MR. Role of the 3′ splice site consensus sequence in mammalian pre-mRNA splicing. Nature. 1985;316:452–57.
  • Mcclements ME, Maclaren RE. Europe PMC funders group gene therapy for retinal disease. Translational Research. 2013;161(4):241–254.
  • Edwards TL, Jolly JK, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, et al. Visual acuity after retinal gene therapy for choroideremia. N Engl J Med. 2016;374(20):1996–8. doi:10.1056/NEJMc1509501.
  • Weleber RG, Pennesi ME, Wilson DJ, Kaushal S, Erker LR, Jensen L, McBride MT, Flotte TR, Humphries M, Calcedo R, et al. Results at 2 years after gene therapy for RPE65-deficient leber congenital amaurosis and severe early-childhood-onset retinal dystrophy. Ophthalmology. Ophthalmology 2016;123:1606–20. doi:10.1016/j.ophtha.2016.03.003.

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.