A novel mutation of the ε-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome

被引：11

作者：

Chen, Xue-Ping ^{[1
]}

Zhang, Yana-Wei ^{[1
]}

Zhang, Shu-Shan ^{[1
]}

Chen, Qin ^{[1
]}

Burgunder, Jean-Marc ^{[1
,2
]}

Wu, Shu-Hui ^{[1
]}

Yang, Yuan ^{[3
]}

Luo, Zu-Ming ^{[1
]}

Shang, Hui-Fang ^{[1
]}

机构：

[1] Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R China

[2] Univ Bern, Inselspital, Dept Neurol, CH-3010 Bern, Switzerland

[3] Sichuan Univ, W China Hospital, Dept Med Genet, Chengdu 610064, Sichuan, Peoples R China

来源：

MOVEMENT DISORDERS | 2008年 / 23卷 / 10期

关键词：

myoclonus-dystonia syndrome; epsilon-sarcoglycan gene; gene mutation;

D O I：

10.1002/mds.22008

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

In a Chinese myoclonus-dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the epsilon-sarcoglycan (SGCE) gene, leading to a frameshift with a down stream stop codon. Low SGCE mRNA levels were detected in the mutation carriers by real-time PCR, suggesting that the nonsense mutation might interference with the stability of SGCE mRNA. This is the first report on Chinese with a SGCE mutation leading to MDS. Our data support the fact that same mutation of SGCE gene can lead to a varied phenotype, even in the same family. (C) 2008 Movement Disorder Society.

引用

页码：1472 / 1475

页数：4

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