A novel mutation of the ε‐sarcoglycan gene in a Chinese family with myoclonus‐dystonia syndrome |
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| Authors: | Xue‐Ping Chen Yang‐Wei Zhang Shu‐Shan Zhang Qin Chen MD Jean‐Marc Burgunder MD Shu‐Hui Wu Yuan Yang MD Zu‐Ming Luo Hui‐Fang Shang MD |
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| Affiliation: | 1. Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, China;2. Department of Neurology, Inselspital, University of Bern, Bern, Switzerland;3. Department of Medical Genetics,West China Hospital, Sichuan University, Chengdu, SiChuan, China |
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| Abstract: | 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 ε‐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. © 2008 Movement Disorder Society |
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| Keywords: | myoclonus‐dystonia syndrome ϵ ‐sarcoglycan gene gene mutation |
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