Ann Lab Med 2017; 37(3): 261-266  https://doi.org/10.3343/alm.2017.37.3.261
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
Rihwa Choi, M.D.1, Hyung-Doo Park, M.D.1, Jung Min Ko, M.D.2, Jeongho Lee, M.D.3, Dong Hwan Lee, M.D.3, Suk Jin Hong, M.D.4, Chang-Seok Ki, M.D.1, Soo-Youn Lee, M.D.1, Jong-Won Kim, M.D.1, Junghan Song, M.D.5, and Yon Ho Choe, M.D.6
Department of Laboratory Medicine and Genetics1, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Pediatrics2, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul; Department of Pediatrics3, Soonchunhyang University Hospital, Seoul; Department of Pediatrics4, Catholic University of Daegu School of Medicine, Daegu; Department of Laboratory Medicine5, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam; Department of Pediatrics6, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Correspondence to: Hyung-Doo Park
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-0290
Fax: +82-2-3410-2719
E-mail: nayadoo@hanmail.net
Junghan Song
Department of Laboratory Medicine, Seoul National University Bundang Hospital, 82 Gumi-ro 173-beon-gil, Bundang-gu, Seongnam 13620, Korea
Tel: +82-31-787-7691
Fax: +82-2-3410-4015
E-mail: songjhcp@snu.ac.kr
Received: July 13, 2016; Revised: October 12, 2016; Accepted: January 2, 2017; Published online: May 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
Background: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients.
Methods: Nine Korean patients from eight unrelated families with GSD Ib were included. SLC37A4 mutations were detected in all patients with direct sequencing using a PCR method and/or whole-exome sequencing. A comprehensive review of previously reported SLC37A4 mutations was also conducted.
Results: Nine different pathogenic SLC37A4 mutations were identified in the nine patients with GSD Ib. Among them, four novel mutations were identified: c.148G>A (pGly50Arg), c.320G>A (p.Trp107*), c.412T>C (p.Trp138Arg), and c.818G>A (p.Gly273Asp). The most common mutation type was missense mutations (66.7%, 6/9), followed by nonsense mutations (22.2%, 2/9) and small deletion mutations (11.1%, 1/9). The most common mutation identified in the Korean population was c.443C>T (p.Ala148Val), which comprised 39.9% (7/18) of all tested alleles. This mutation has not been reported in GSD Ib patients in other ethnic populations.
Conclusions: This study expands knowledge of the SLC37A4 mutation spectrum in Korean patients with GSD Ib.
Keywords: Glycogen storage disease, GSD Ib, Korean population, mutation, SLC37A4


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