Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehakro Jongno-gu, Seoul, Korea, 110-744.
Department of Pediatrics, Department of Genome Medicine and Science, Gachon University Gil Medical Center, Incheon, Korea.
Muscle Nerve. 2018 Sep;58(3):381-388. doi: 10.1002/mus.26093.
We aimed to analyze the clinical and genetic characteristics of collagen VI-related myopathy.
We analyzed the clinical course and mutation spectrum in patients with collagen VI gene mutations among our congenital muscular dystrophy cohort.
Among 24 patients with mutations in collagen VI coding genes, 13 (54.2%) were categorized as Ullrich type, and 11 (45.8%) as non-Ullrich type. Congenital orthopedic problems were similarly observed in both types, yet multiple joint contractures were found only in the Ullrich type. Clinical courses and pathology findings varied between patients. Mutations in COL6A1, COL6A2, and COL6A3 were found in 15 (65%), 3 (13%), and 5 (22%) patients, respectively, without genotype-phenotype association. Five novel variants were detected.
We verified clinical heterogeneity of collagen VI-related myopathy, which emphasizes the importance of genetic testing. Genotype-phenotype association or early predictors for progression were not identified. Multiple joint contractures predict rapid deterioration. Muscle Nerve 58: 381-388, 2018.
我们旨在分析与胶原 VI 相关的肌病的临床和遗传特征。
我们分析了在先天性肌营养不良患者队列中胶原 VI 基因突变患者的临床过程和突变谱。
在 24 名存在胶原 VI 编码基因突变的患者中，13 名（54.2%）为 Ullrich 型，11 名（45.8%）为非-Ullrich 型。两种类型均存在先天性骨科问题，但仅在 Ullrich 型中发现多发性关节挛缩。患者之间的临床过程和病理发现存在差异。在 15 名（65%）、3 名（13%）和 5 名（22%）患者中分别发现了 COL6A1、COL6A2 和 COL6A3 基因突变，没有基因型-表型关联。检测到 5 种新的变异。
我们验证了与胶原 VI 相关的肌病的临床异质性，这强调了基因检测的重要性。未确定基因型-表型关联或进展的早期预测因子。多发性关节挛缩预示着病情迅速恶化。肌肉神经 58:381-388,2018。
