Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Department of Human Genetics, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Neurol India. 2023 Nov-Dec;71(6):1257-1259. doi: 10.4103/0028-3886.391402.
Collagen XII, a member of a protein family called fibril associated collagen with interrupted triple helices (FACIT), is an important component of extracellular matrix and is essential for bridging the neighbouring fibrils. Mutations in collagen XII have been recently described to cause a rare extracellular matrix-related myopathy in those whose phenotype resembles collagen VI-related dystrophies and were negative for pathogenic variants in COL6A genes. The authors report a 4-year old girl presented with a phenotype mimicking Ullrich congenital muscular dystrophy and genetically confirmed to have pathogenic variants in COL12A1 gene thus, expanding the phenotypic spectrum of COL12A1-related myopathy.
胶原 XII，是纤维相关的具有间断三螺旋的胶原家族（FACIT）中的一员，是细胞外基质的重要组成部分，对于连接相邻的纤维至关重要。最近的研究发现，胶原 XII 的突变会导致一种罕见的细胞外基质相关的肌肉病，这些患者的表型类似于胶原 VI 相关的营养不良症，并且 COL6A 基因的致病性变异呈阴性。作者报告了一例 4 岁女孩的表型类似于先天性肌营养不良症，并通过基因检测证实 COL12A1 基因存在致病性变异，从而扩展了 COL12A1 相关肌肉病的表型谱。
