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Ophthalmic Genetics Volume 36, 2015 - Issue 1
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Case Report

A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations

Arif O. KhanDivision of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia, Correspondence[email protected]
,
Carsten BergmannCenter for Human Genetics, Bioscientia, Ingelheim, Germany, ;Department of Nephrology & Center for Clinical Research, University Hospital Freiburg, Germany, and
,
Christine NeuhausCenter for Human Genetics, Bioscientia, Ingelheim, Germany,
&
Hanno J. BolzCenter for Human Genetics, Bioscientia, Ingelheim, Germany, ;Institute of Human Genetics, University of Cologne, Cologne, Germany
Pages 79-84 | Received 03 Oct 2014, Accepted 31 Oct 2014, Published online: 05 Dec 2014

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Noy Ashkenazy, Jesse D. Sengillo, Prashanth G. Iyer, Catherin I. Negron, Nicolas A. Yannuzzi & Audina M. Berrocal. (2023) Phenotypic expansion of KCNJ13-associated snowflake vitreoretinal degeneration. Ophthalmic Genetics 44:5, pages 505-508.
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Marion Schroeder, Virginie G. Peter, Lotta Gränse, Sten Andréasson, Carlo Rivolta & Ulrika Kjellström. (2022) A novel phenotype associated with the R162W variant in the KCNJ13 gene. Ophthalmic Genetics 43:4, pages 500-507.
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Srikanta Kumar Padhy, Brijesh Takkar, Raja Narayanan, Pradeep Venkatesh & Subhadra Jalali. (2020) Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date. The Application of Clinical Genetics 13, pages 179-208.
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Arif O. Khan, Steffen Lenzner & Hanno J. Bolz. (2017) A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy. Ophthalmic Genetics 38:4, pages 380-382.
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Arif O. Khan & Hanno J. Bolz. (2016) Phenotypic observations in “hypotrichosis with juvenile macular dystrophy” (recessive CDH3 mutations). Ophthalmic Genetics 37:3, pages 301-306.
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Ciria C. Hernandez, Luis E. Gimenez, Naima S. Dahir, Alys Peisley & Roger D. Cone. (2023) The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control. American Journal of Physiology-Cell Physiology 324:3, pages C694-C706.
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Yuki Kanzaki, Hirofumi Fujita, Keita Sato, Mio Hosokawa, Hiroshi Matsumae, Yuki Morizane & Hideyo Ohuchi. (2022) Protrusion of KCNJ13 Gene Knockout Retinal Pigment Epithelium Due to Oxidative Stress–Induced Cell Death . Investigative Opthalmology & Visual Science 63:12, pages 29.
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Katie M. Beverley & Bikash R. Pattnaik. (2022) Inward rectifier potassium (Kir) channels in the retina: living our vision. American Journal of Physiology-Cell Physiology 323:3, pages C772-C782.
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Erwin Vera, Isabel Cornejo, María Isabel Niemeyer, Francisco V. Sepúlveda & L. Pablo Cid. (2020) Altered phosphatidylinositol regulation of mutant inwardly rectifying K + Kir7.1 channels associated with inherited retinal degeneration disease . The Journal of Physiology 599:2, pages 593-608.
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Marco Podobnik, Hans Georg Frohnhöfer, Christopher M. Dooley, Anastasia Eskova, Christiane Nüsslein-Volhard & Uwe Irion. (2020) Evolution of the potassium channel gene Kcnj13 underlies colour pattern diversification in Danio fish. Nature Communications 11:1.
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Meha Kabra & Bikash Ranjan Pattnaik. (2020) Sensing through Non-Sensing Ocular Ion Channels. International Journal of Molecular Sciences 21:18, pages 6925.
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Maria Toms, Adam M. Dubis, Wei Sing Lim, Andrew R. Webster, Michael B. Gorin & Mariya Moosajee. (2019) Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish. Experimental Eye Research 189, pages 107852.
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Pawan K. Shahi, Dalton Hermans, Divya Sinha, Simran Brar, Hannah Moulton, Sabrina Stulo, Katarzyna D. Borys, Elizabeth Capowski, De-Ann M. Pillers, David M. Gamm & Bikash R. Pattnaik. (2019) Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness. The American Journal of Human Genetics 104:2, pages 310-318.
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Sharola Dharmaraj, Anshuman Verma, P. Sundaresan & Chitra Kannabiran. 2019. Advances in Vision Research, Volume II. Advances in Vision Research, Volume II 191 231 .
Sheridan J. Carrington, Ciria C. Hernandez, Daniel R. Swale, Oluwatosin A. Aluko, Jerod S. Denton & Roger D. Cone. (2018) G protein–coupled receptors differentially regulate glycosylation and activity of the inwardly rectifying potassium channel Kir7.1. Journal of Biological Chemistry 293:46, pages 17739-17753.
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A.O. Khan, B.S. Budde, P. Nürnberg, A. Kawalia, S. Lenzner & H.J. Bolz. (2018) Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1 -related fundus phenotype . Clinical Genetics 93:1, pages 149-154.
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Sarah Perez-RoustitVirginie MarquetteBéatrice BocquetJosseline KaplanIsabelle PerraultIsabelle MeunierChristian P. Hamel. (2017) LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13. RETINAL Cases & Brief Reports 11:3, pages 221-226.
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Inam N Bifari, Sahar M Elkhamary, Hanno J Bolz & Arif O Khan. (2016) The ophthalmic phenotype of IFT140 -related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy . British Journal of Ophthalmology 100:6, pages 829-833.
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Arif O Khan, Saba Al Rashaed, Christine Neuhaus, Carsten Bergmann & Hanno J Bolz. (2016) Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation. British Journal of Ophthalmology 100:2, pages 209-215.
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Bikash R. Pattnaik, Pawan K. Shahi, Meghan J. Marino, Xinying Liu, Nathaniel York, Simran Brar, John Chiang, De-Ann M. Pillers & Elias I. Traboulsi. (2015) A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16) . Human Mutation 36:7, pages 720-727.
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