170
Views
1
CrossRef citations to date
0
Altmetric
Case Reports

Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene

ORCID Icon, , , , & ORCID Icon
Pages 300-303 | Received 03 Nov 2020, Accepted 26 Dec 2020, Published online: 19 Jan 2021

References

  • Javadzadeh A, Gharabaghi D. Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report. J Med Case Rep. 2007;1: 27. Epub 2007/ 06/15. doi:10.1186/1752-1947-1-27.
  • Zekusic M, Skaricic A, Fumic K, Rogic D, Zigman T, Petkovic Ramadza D, Vukojević N, Rüfenacht V, Uroić V, Barić I. Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report. Biochemia Medica. 2018;28(3):030801. Epub 2018/ 11/16. doi:10.11613/BM.2018.030801.
  • Ginguay A, Cynober L, Curis E, Nicolis I. Ornithine aminotransferase, an important glutamate-metabolizing enzyme at the crossroads of multiple metabolic pathways. Biology. 2017;6(1). Epub 2017/ 03/09. doi:10.3390/biology6010018.
  • Slassi N, El Yamouni O, Kapoli Wetshi A, Soufi G, Bernoussi A, Berraho A. A late discovery of familial gyrate atrophy of the choroid and retina. J francais d’ophtalmologie. 2016;39(4):e101–3. Epub 2016/ 03/10. doi:10.1016/j.jfo.2015.01.027.
  • Tsang SH, Aycinena ARP, Sharma T. Inborn errors of metabolism: gyrate atrophy. Adv Exp Med Biol. 2018;1085, Epub 2018/ 12/24:183–85.
  • Miller SA, Dykes DD, Polesky HF.A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.doi:10.1093/nar/16.3.1215.
  • Takahashi O, Hayasaka S, Kiyosawa M, Mizuno K, Saito T, Tada K, Igarashi Y. Gyrate atrophy of choroid and retina complicated by vitreous hemorrhage. Jpn J Ophthalmol. 1985;292:170–76. Epub 1985/ 01/01.
  • Kaiser-Kupfer MI, Caruso RC, Valle D. Gyrate atrophy of the choroid and retina. Long-term reduction of ornithine slows retinal degeneration. Arch Ophthalmol. 1991;109(11):1539–48. Epub 1991/ 11/01. doi:10.1001/archopht.1991.01080110075039.
  • Peltola KE, Nanto-Salonen K, Heinonen OJ, Jaaskelainen S, Heinanen K, Simell O, Nikoskelainen E. Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase. Ophthalmology. 2001;108(4):721–29. Epub 2001/ 04/12. doi:10.1016/S0161-6420(00)00587-X.
  • Michaud J, Thompson GN, Brody LC, Steel G, Obie C, Fontaine G, Schappert K, Keith CG, Valle D, Mitchell GA. Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. Am J Hum Genet 1995;56:616–22.
  • Brody L, Mitchell G, Obie C, Michaud J, Steel G, Fontaine G, Robert MF, Sipila I, Kaiser-Kupfer M, Valle D. Ornithine δ-aminotransferase mutations in gyrate atrophy: allelic heterogeneity and functional consequences. J Biol Chem. 1992;267:3302–07.
  • Mashima Y, Shiono T, Inana G. Rapid and efficient molecular analysis of gyrate atrophy using denaturing gradient gel electrophoresis. Invest Ophthalmol Vis Sci. 1994;35(3):1065–70. Epub 1994/ 03/01.
  • Doimo M, Desbats MA, Baldoin MC, Lenzini E, Basso G, Murphy E, Graziano C, Seri M, Burlina A, Sartori G, et al. Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. Hum Mutat. 2013;34(1):229–36. Epub 2012/ 10/19. doi:10.1002/humu.22233.
  • Cui X, Jauregui R, Park KS, Tsang SH.Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy. Ophthalmic Genet. 2018;39(4):512–16.doi:10.1080/13816810.2018.1474370.
  • Kennaway NG, Stankova L, Wirtz MK, Weleber RG. Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6. Am J Hum Genet. 1989;44(3):344–52. Epub 1989/ 03/01.

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.