Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Ann Lab Med. 2017 Nov;37(6):540-543. doi: 10.3343/alm.2017.37.6.540.
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+5_1560+8del), [corrected] 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.
骨斑点症是一种常染色体显性遗传性骨骼疾病，其特征为全身中轴骨和附肢骨骼存在对称的多发性硬化性病变。LEMD3 的致病变异被认为是骨斑点症的病因。LEMD3 编码一种核内膜蛋白，与骨形态发生蛋白（BMP）和转化生长因子-β（TGF-β）通路相互作用。我们报告了一例 19 岁男性，因腰痛和坐骨神经痛就诊。他的 X 光片显示双侧肩胛区存在对称多发性硬化性骨病变。LEMD3 的 Sanger 测序显示第 2 内含子中存在 4 个碱基对缺失（c.1560+5_1560+8del），[校正]这是从他父亲那里遗传来的。我们发现，第 2 内含子中的这 4 个碱基对缺失导致异常剪接，从而导致第 2 外显子缺失。据我们所知，这是韩国首例经基因证实的骨斑点症报告。
