Beytía Maria de los Angeles, Dekomien Gabriele, Hoffjan Sabine, Haug Verena, Anastasopoulos Constantin, Kirschner Janbernd
Division of Neuropediatrics and Muscle Disorders, University Medical Centre, Freiburg, Germany; Division Pediatria, Facultad de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile.
Department of Human Genetics, Ruhr-University Bochum, Germany.
Mol Cell Probes. 2014 Aug;28(4):118-22. doi: 10.1016/j.mcp.2013.11.002. Epub 2013 Nov 10.
Primary deficiency of laminin alpha-2 due to mutations in the LAMA2 gene accounts for 30% of all patients with congenital muscular dystrophy. Here, we present seven patients with partial or total laminin alpha-2 deficiency (MDC1A) with a wide clinical spectrum, ranging from ambulant patients to patients who were never able to stand or sit. We identified two pathogenic mutations in the LAMA2 gene in all patients except for one patient in whom only one mutation was found. Six of the mutations were previously undescribed. In some of the milder cases, laminin alpha-2 expression in the muscle biopsy was only slightly reduced. These findings emphasize that analysis of the LAMA2 gene might be necessary in patients with muscle weakness, cerebral white matter changes and high creatine kinase levels, even in the presence of laminin alpha-2 in the muscle biopsy.
由于LAMA2基因突变导致的层粘连蛋白α-2原发性缺乏占所有先天性肌营养不良患者的30%。在此，我们报告了7例部分或完全缺乏层粘连蛋白α-2（MDC1A）的患者，其临床谱广泛，从能行走的患者到从未能够站立或坐立的患者。除1例仅发现1个突变的患者外，我们在所有患者中均鉴定出LAMA2基因的2个致病突变。其中6个突变以前未被描述。在一些病情较轻的病例中，肌肉活检中层粘连蛋白α-2的表达仅略有降低。这些发现强调，即使肌肉活检中存在层粘连蛋白α-2，对于有肌肉无力、脑白质改变和高肌酸激酶水平的患者，也可能有必要分析LAMA2基因。
