Advanced search
Publication Cover
Ophthalmic Genetics Volume 41, 2020 - Issue 4
Submit an article Journal homepage
335
Views
5
CrossRef citations to date
0
Altmetric
Case Reports

Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy

Jeeyun Ahna Department of Ophthalmology, Seoul National University, College of Medicine, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Korea;b UCLA Stein Eye Institute, Division of Retinal Disorders and Ophthalmic Genetics, Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USAView further author information
,
John Chiangc Molecular Vision Laboratory, Portland, OR, USAView further author information
&
Michael B. Gorinb UCLA Stein Eye Institute, Division of Retinal Disorders and Ophthalmic Genetics, Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA;d Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USACorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0001-9498-7982View further author information
ORCID Icon
Pages 386-389 | Received 17 May 2020, Accepted 13 Jun 2020, Published online: 29 Jun 2020

References

  • Pagon RA.Retinitis pigmentosa. Surv Ophthalmol. 1988;33(3):137–77. doi:10.1016/0039-6257(88)90085-9.
  • 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;66:157–86.
  • Sorrentino FS, Gallenga CE, Bonifazzi C, Perri P.A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies. Eye (Lond). 2016;30(12):1542–48. doi:10.1038/eye.2016.197.
  • Salmaninejad A, Motaee J, Farjami M, Alimardani M, Esmaeilie A, Pasdar A.Next-generation sequencing and its application in diagnosis of retinitis pigmentosa. Ophthalmic Genet. 2019;40(5):393–402. doi:10.1080/13816810.2019.1675178.
  • Daiger SP, Rossiter BJF, Greenberg J, Christoffels A, Hide W. Data services and software for identifying genes and mutations causing retinal degeneration. Invest Ophthalmol Vis Sci. 1998;39(S295).
  • Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, et al. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013;23(2):236–47.doi:10.1101/gr.144105.112.
  • Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, et al. Diagnostic exome sequencing in 266 Dutch patients with visual impairment. Eur J Hum Genet. 2017;25(5):591–99. doi:10.1038/ejhg.2017.9.
  • Bok D, Galbraith G, Lopez I, Woodruff M, Nusinowitz S, BeltrandelRio H, Huang W, Zhao S, Geske R, Montgomery C, et al. Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3. Nat Genet. 2003;34(3):313–19. doi:10.1038/ng1176.
  • Pushkin A, Abuladze N, Lee I, Newman D, Hwang J, Kurtz I.Mapping of the human NBC3 (SLC4A7) gene to chromosome 3p22. Genomics. 1999;57(2):321–22.
  • Pushkin A, Abuladze N, Lee I, Newman D, Hwang J, Kurtz I.Cloning, tissue distribution, genomic organization, and functional characterization of NBC3, a new member of the sodium bicarbonate cotransporter family. J Biol Chem. 1999;274(23):16569–75. doi:10.1074/jbc.274.23.16569.
  • Fredriksson R, Nordstrom KJ, Stephansson O, Hagglund MG, Schioth HB.The solute carrier (SLC) complement of the human genome: phylogenetic classification reveals four major families. FEBS Lett. 2008;582(27):3811–16. doi:10.1016/j.febslet.2008.10.016.
  • Schaller L, Lauschke VM.The genetic landscape of the human solute carrier (SLC) transporter superfamily. Hum Genet. 2019;138(11–12):1359–77. doi:10.1007/s00439-019-02081-x.

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:

Order Reprints Request Corporate Permissions

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:

Request Academic Permissions

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.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.