A novelSGCEvariant is associated with myoclonus-dystonia with phenotypic variability
A novelSGCEvariant is associated with myoclonus-dystonia with phenotypic variability
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DOI：
10.1007/s10072-020-04718-6
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发表时间：
2020-09-21
影响因子：
3.3
通讯作者：
Riancho, Javier
中科院分区：
文献类型：
--
作者：
Delgado-Alvarado, Manuel;Matilla-Duenas, Antoni;Riancho, Javier
肌阵挛-肌张力障碍与ε-肌聚糖基因相关（SGCE）是一种罕见的疾病，其特征是肌阵挛累及上半身（颈部、躯干、上肢）和近端肌肉，半数以上患者伴有肌张力障碍。当临床表现被明确识别时，超过一半的病例与SGCE基因突变有关。我们在此描述了一个肌阵挛-肌张力障碍家族，该家族与SGCE外显子7中的新突变c.904A>T（p.Lys302Ter）[Chr 7：（GRCh 38）：g.94600779 T>A]相关，该突变在一个非受累成员中缺失。提供了两名受影响成员的录像。虽然索引病例表现出严重的颈部肌张力障碍，甚至影响背部姿势，但他的兄弟姐妹表现出更温和的表型，伴有轻度肌阵挛性抽搐。他们都没有酒精反应或精神共病。
Myoclonus-dystonia associated with epsilon-sarcoglycan gene (SGCE)is a rare disorder characterized by myoclonus involving the upper body (neck, trunk, upper limbs) and proximal muscles associated with dystonia in more than half of the patients. When the clinical picture is clearly identified, more than half of the cases are associated with mutations in theSGCEgene. We herein describe a family with myoclonus-dystonia associated with a novel mutation in exon 7 ofSGCE, c.904A>T (p.Lys302Ter) [Chr7:(GRCh38):g.94600779 T>A], which was absent in a non-affected member. A video recording of two of the affected members is provided. While the index case presents a severe cervical dystonia even affecting back posture, his sibling shows a much milder phenotype with mild myoclonic jerks. None of them had alcohol responsiveness or psychiatric comorbidity.