Xia Yu, Feng Yijie, Xu Lu, Chen Xiaoyang, Gao Feng, Mao Shanshan
National Clinical Research Center for Child Health, Department of Neurology, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
National Clinical Research Center for Child Health, Department of Developmental and Behavioral Pediatrics, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Front Genet. 2021 Mar 10;12:605611. doi: 10.3389/fgene.2021.605611. eCollection 2021.
Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are two common kinds of neuromuscular disorders sharing various similarities in clinical manifestations. SMA is an autosomal recessive genetic disorder that results from biallelic mutations of the survival motor neuron 1 gene (; OMIM 600354) on the 5q13 chromosome. DMD is an X-linked disorder caused by defects in the gene (OMIM 300377) on the X chromosome. Here, for the first time, we report a case from a Chinese family who present with clinical manifestations of both two diseases, including poor motor development and progressive muscle weakness. We identified a homozygous deletion in exons 7 and 8 of the gene and a deletion in exon 50 of the gene by whole-exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA). This case expands our understanding of diagnosis for synchronous SMA and DMD and highlights the importance of various genetic testing methods, including WES, in differential diagnosis of neuromuscular diseases.
脊髓性肌萎缩症（SMA）和杜氏肌营养不良症（DMD）是两种常见的神经肌肉疾病，在临床表现上有诸多相似之处。SMA是一种常染色体隐性遗传病，由5号染色体长臂13区（5q13）上的生存运动神经元1基因（；OMIM 600354）双等位基因突变引起。DMD是一种X连锁疾病，由X染色体上的基因（OMIM 300377）缺陷导致。在此，我们首次报告了一个来自中国家庭的病例，该病例同时具有这两种疾病的临床表现，包括运动发育迟缓及进行性肌无力。通过全外显子组测序（WES）和多重连接依赖探针扩增技术（MLPA），我们在基因的第7和第8外显子中发现了一个纯合缺失，在基因的第50外显子中发现了一个缺失。该病例拓宽了我们对同步发生的SMA和DMD诊断的认识，并突出了包括WES在内的各种基因检测方法在神经肌肉疾病鉴别诊断中的重要性。
