Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
复制标题
日本家族性肌阵挛-肌张力障碍综合征病例，伴有 SGCE 剪接突变。
DOI：
10.1111/ped.12613
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Osaka H.
中科院分区：
文献类型：
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作者：
Wada T;Takano K;Tsurusaki Y;Miyake N;Nakashima M;Saitsu H;Matsumoto N;Osaka H.
肌阵挛-肌张力障碍综合征是一种罕见的常染色体显性遗传性运动障碍，其特征是在儿童期或青春期早期开始出现短暂的、经常是酒精反应性的肌阵挛，由ε-肌聚糖基因突变引起。患者是一名6岁男孩。2岁8个月时，因左腿肌张力障碍，跑步时出现异常运动。3岁零5个月时，进食时出现肌张力障碍和手臂肌阵挛运动。当他感到焦虑或疲惫时，很可能会发生肌阵挛。基因组DNA显示SGCE(C.109+1G>；T)存在杂合突变。他的父亲和叔叔有相同的突变，也经历了轻微的肌张力障碍或肌阵挛运动。SGCE突变可以在家庭之间和家庭内部引起广泛的临床症状。我们应该考虑将MDS作为发作性行走异常和/或肌阵挛运动患者的鉴别诊断。
Myoclonus–dystonia syndrome (MDS) is a rare autosomal‐dominant movement disorder characterized by brief, frequently alcohol‐responsive myoclonic jerks that begin in childhood or early adolescence, caused by mutations in the ε‐sarcoglycan gene (SGCE). The patient was a 6‐year‐old boy. At 2 years 8 months, he had abnormal movement when he ran due to dystonia of his left leg. At 3 years 5 months, he exhibited dystonia and myoclonic movement of his arms when eating. Myoclonus was likely to develop when he felt anxiety or exhaustion. Genomic DNA showed a heterozygous mutation inSGCE(c.109 + 1 G > T). His father and uncle with the same mutation also experienced milder dystonia or myoclonic movements.SGCEmutation can cause a broad range of clinical symptoms between and within families. We should consider MDS as a differential diagnosis for patients with paroxysmal walking abnormalities and/or myoclonic movements.