Medical Genetics and Cardiomyology, University Hospital "L. Vanvitelli", Naples, Italy.
Department of Precision Medicine, University of Campania "L. Vanvitelli", Naples, Italy.
Acta Myol. 2022 Jun 30;41(2):95-98. doi: 10.36185/2532-1900-073. eCollection 2022 Jun.
Mutations in the genes encoding collagen VI cause Bethlem myopathy (MIM 158810), Ullrich congenital muscular dystrophy (MIM 254090), and myosclerosis myopathy (MIM #255600). BM is a dominantly inherited disorder, characterised by proximal muscle weakness and joint contractures mainly involving the elbows, ankles, and fingers, which usually follows a relatively mild course. By contrast, UCMD is a severe muscular dystrophy characterized by early onset, rapidly progressive muscle wasting and weakness, proximal joint contractures and distal joint hyperlaxity. Rapid progression usually leads to early death due to respiratory failure. UCMD is usually inherited as an autosomal recessive trait though dominant heterozygous variants have recently been reported. We describe a further patient with UCMD classical presentation who showed, at the NGS analysis, the variant c.6210+1G > A in the intron 16 of the gene , known in the literature as pathogenic (VCV0000949S6.5).
编码胶原 VI 的基因突变会导致 Bethlem 肌病（MIM 158810）、Ullrich 先天性肌营养不良症（MIM 254090）和肌硬化性肌病（MIM #255600）。BM 是一种显性遗传疾病，其特征是近端肌肉无力和关节挛缩，主要涉及肘部、脚踝和手指，通常病程相对较轻。相比之下，UCMD 是一种严重的肌肉营养不良症，其特征是早期发病、迅速进展的肌肉消瘦和无力、近端关节挛缩和远端关节过度松弛。快速进展通常导致因呼吸衰竭而早亡。UCMD 通常作为常染色体隐性遗传特征遗传，但最近也有报道称存在显性杂合变异体。我们描述了另一位具有 UCMD 经典表现的患者，在 NGS 分析中显示基因 16 号内含子中的 c.6210+1G > A 变异，该变异在文献中被认为是致病性的（VCV0000949S6.5）。
