Ann Lab Med 2017; 37(6): 536-539  
Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy
Jong Min Kim, M.D.1, Chung Lee, B.S.2,3, Ga-In Lee, M.D.1, Nayoung K. D. Kim, Ph.D.2, Chang-Seok Ki, M.D.4, Woong-Yang Park, M.D.2,5, Byoung Joon Kim, M.D.6, and Sang Jin Kim, M.D.1
Department of Ophthalmology1, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Samsung Genome Institute2, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Health Sciences and Technology3, SAIHST, Sungkyunkwan University, Seoul; Department of Laboratory Medicine and Genetics4, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Molecular Cell Biology5, Sungkyunkwan University School of Medicine, Seoul; Department of Neurology6, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Correspondence to: Sang Jin Kim
Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-6775 Fax: +82-2-3410-0074 E-mail: sangjinkim@skku.edu
Received: January 31, 2017; Revised: March 21, 2017; Accepted: July 12, 2017; Published online: November 1, 2017.
© The Korean Society for Laboratory Medicine. All rights reserved.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Stargardt-like macular dystrophy 4 (STGD4) is a rare macular dystrophy characterized by bull’s eye atrophy of the macula and the underlying retinal pigment epithelium. Patients with STGD4 show decreased central vision, which often progresses to severe vision loss. The PROM1 gene encodes prominin-1, which is a 5-transmembrane glycoprotein also known as CD133 and is involved in photoreceptor disk morphogenesis. PROM1 mutations have been identified as genetic causes for STGD4 and other retinal degenerations such as retinitis pigmentosa. We report a case of STGD4 with a PROM1 p.R373C mutation in a Korean patient. Ophthalmic examinations of a 38-yr old man complaining of decreased visual acuity revealed bilateral atrophic macular lesions consistent with STGD4. Targeted exome sequencing of known inherited retinal degeneration genes revealed a heterozygous missense mutation c.1117C>T (p.R373C) of PROM1, which was confirmed by Sanger sequencing. To the best of our knowledge, this is the first case of a PROM1 mutation causing STGD4 in Koreans.
Keywords: Macular dystrophy, Prominin-1, PROM1, Stargardt-like macular dystrophy


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