SOD1基因突变合并SMN1基因异常重复所致运动神经元病1例

Clinical,myopathological and genetic research of a patient with motor neuron disease caused by SOD1 gene mutation and SMN1 gene duplications

报告1例由SOD1基因p.F64L(c.195T>A)突变合并SMN1基因异常重复导致的进行性肌萎缩患者的临床、病理及基因特点。收集患者临床及影像学资料。对患者左侧腓肠肌进行组织病理检查。通过二代测序+Sanger测序检测患者全外显子,利用多重连接探针扩增技术检测SMN1基因。患者男,53岁,因“肌肉萎缩伴乏力不适2年”入院。双侧小腿核磁提示双侧腓肠肌水肿。肌肉病理检查呈神经源性改变。基因结果提示该患者SOD1基因存在一处杂合突变p.F64L,SMN1基因8号外显子区域异常重复变异。SOD1基因p.F64L突变合并SMN1基因异常重复可引起运动神经元病进行性肌萎缩型,临床医生需重视基因检测在散发性运动神经元病患者诊断中的应用。

To report the clinical myopathological and genetic features of a patient with motor neuron disease,who carried SOD1 gene mutation p.F64L(c.195 T>A)and SMN1 gene duolications.The patient’s clinical and imaging materials were collected.An biopsy of left gastrocnemius was performed.The whole exon of the patients was detected by secondgeneration sequencing,and the SMN1 gene was detected by multiple ligation-dependent probe amplification.The patient was a 53-year-old male.He had progressive weakness and muscle atrophy for 2 years.Axial T2-weighted MR image of lower extremities showed muscle edema pattern.Muscle biopsy showed neurogenic damages.There was a heterozygous mutation in the exons of the SOD1 gene(p.F64L),and duplications in the exon eight of SMN1.SOD1(p.F64L)mutation associated with SMN1 duplications can cause progressive muscular atrophy.Physicians should pay attention to the application of gene test in sporadic motor neuron disease.