Ann Lab Med 2017; 37(5): 438-442  https://doi.org/10.3343/alm.2017.37.5.438
Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia
Kunho Bae, M.D.1,*, Ju Sun Song, M.D.2,*, Chung Lee, B.S.3,4, Nayoung K.D. Kim, Ph.D.3, Woong-Yang Park, M.D.3,5, Byoung Joon Kim, M.D.6, Chang-Seok Ki, M.D.2, and Sang Jin Kim, M.D.1
Departments of Ophthalmology1, Laboratory Medicine and Genetics2, and Neurology6, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Samsung Genome Institute3, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Health Sciences and Technology4, SAIHST, Sungkyunkwan University, Seoul; Department of Molecular Cell Biology5, 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: +82-2-3410-6775Fax: +82-2-3410-0074E-mail: sangjinkim@skku.edu
Chang-Seok Ki
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu,Seoul 06351, Korea
Tel: +82-2-3410-2709Fax: +82-2-3410-0022E-mail: changski@skku.edu
*Contributed equally as first authors.
Received: December 15, 2016; Revised: January 22, 2017; Accepted: May 31, 2017; Published online: September 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
Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands had progressive loss of visual field with characteristic chorioretinal atrophy, while electroretinography demonstrated nearly extinguished cone and rod responses compatible with choroideremia. Sanger sequencing of all coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c.184_189+3delTACCAGGTA) in one patient and a deletion of the entire exon 9 in the other. This is the first report on a molecular genetic diagnosis of choroideremia in Korean individuals. Molecular diagnosis of choroideremia should be widely adopted for proper diagnosis and the development of new treatment modalities including gene therapy.
Keywords: Choroideremia, CHM, Inherited retinal degeneration


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