Ann Lab Med 2017; 37(6): 540-543  
Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis
In Young Yoo, M.D.1, Ju-Sun Song, M.D.1, Chang-Seok Ki, M.D.1, Jong-Won Kim, M.D.1, Hoon-Suk Cha, M.D.2, and Yong-Ki Min, M.D.2
Department of Laboratory Medicine and Genetics1, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Division of Endocrinology and Metabolism2, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Correspondence to: 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: +82-2-3410-2709 Fax: +82-2-3410-2719 E-mail: changski@skku.edu
Co-corresponding author: Yong-Ki Min
Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-3432 Fax: +82-2-3410-3849 E-mail: ykmin@skku.edu
Received: February 9, 2017; Revised: April 10, 2017; Accepted: July 18, 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
Osteopoikilosis is an autosomal dominant bone disorder characterized by symmetric multiple osteosclerotic lesions throughout the axial and appendicular skeleton. Pathogenic variants in the LEMD3 have been identified as the cause of osteopoikilosis. LEMD3 encodes an inner nuclear membrane protein that interacts with bone morphogenetic protein (BMP) and transforming growth factor (TGF)-β pathways. We report the case of a 19-year-old man presenting with lower back pain and sciatica. His radiograph revealed bilateral and symmetrical multiple osteosclerotic bone lesions in both scapular areas. Sanger sequencing of LEMD3 revealed a four-base-pair deletion in intron 2 (c.1560+3_1560+6del), which was inherited from his father. We found that this four-base-pair deletion in intron 2 causes aberrant splicing and consequent deletion of exon 2. To the best of our knowledge, this is the first report of genetically confirmed osteopoikilosis in Korea.
Keywords: LEMD3, Osteopoikilosis, Sequencing, Deletion


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