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
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
收藏
页码:1472 / 1475
页数:4
相关论文
共 50 条
[21]   Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant [J].
Alghamdi, Malak Ali ;
Hamad, Muddathir H. ;
Alghamdi, Isra ;
Alghamdi, Ghiada ;
Al-Jelaify, Muneera ;
Alshimemeri, Sohaila ;
Hamed, Hebattalah ;
Adly, Nouran ;
Salih, Mustafa A. ;
Almontashiri, Naif A. ;
Bashiri, Fahad A. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2025, 197 (05)
[22]   Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome [J].
Kuncel, Alexis M. ;
Turner, Dennis A. ;
Ozelius, Laurie J. ;
Greene, Paul E. ;
Grill, Warren M. ;
Stacy, Mark A. .
CLINICAL NEUROLOGY AND NEUROSURGERY, 2009, 111 (03) :303-306
[23]   Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome [J].
Xiao, Jianfeng ;
Vemula, Satya R. ;
Xue, Yi ;
Khan, Mohammad M. ;
Carlisle, Francesca A. ;
Waite, Adrian J. ;
Blake, Derek J. ;
Dragatsis, Ioannis ;
Zhao, Yu ;
LeDoux, Mark S. .
NEUROBIOLOGY OF DISEASE, 2017, 98 :52-65
[24]   Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families [J].
Nardocci, Nardo ;
Zorzi, Giovanna ;
Barzaghi, Chiara ;
Zibordi, Federica ;
Ciano, Claudia ;
Ghezzi, Daniele ;
Garavaglia, Barbara .
MOVEMENT DISORDERS, 2008, 23 (01) :28-34
[25]   Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation [J].
Kaczynska, Justyna ;
Jamrozik, Zygmunt ;
Szubiga, Michal ;
Rudzinska-Bar, Monika ;
Janik, Piotr .
NEUROLOGIA I NEUROCHIRURGIA POLSKA, 2020, 54 (01) :33-38
[26]   Is Psychopathology Part of the Phenotypic Spectrum of Myoclonus-dystonia? A Study of a Large Dutch M-D Family [J].
Foncke, Elisabeth M. J. ;
Cath, Danielle ;
Zwinderman, Koos ;
Smit, Jan ;
Schmand, Ben ;
Tijssen, Marina .
COGNITIVE AND BEHAVIORAL NEUROLOGY, 2009, 22 (02) :127-133
[27]   A novel mutation of the KIT gene in a Chinese family with piebaldism [J].
Wen Guang-dong ;
Zhou Cheng ;
Yu Cong ;
Du Juan ;
Xu Qian-xi ;
Liu Zheng-yi ;
Zhang Jian-zhong .
CHINESE MEDICAL JOURNAL, 2013, 126 (12) :2325-2328
[28]   Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7 [J].
Sheridan, M. B. ;
Telegrafi, A. Bytyci ;
Stinnett, V. ;
Umeh, C. C. ;
Mari, Z. ;
Dawson, T. M. ;
Bodurtha, J. ;
Batista, D. A. S. .
CLINICAL GENETICS, 2013, 84 (04) :368-372
[29]   A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I [J].
Ma, Jing ;
Lin, Ken ;
Jiang, Hong-chao ;
Yang, Yanli ;
Zhang, Yu ;
Yang, Guilian ;
Sun, Hao ;
Ming, Cheng ;
Bi, Xianyun ;
Zhang, Tiesong ;
Ruan, Biao .
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (07)
[30]   A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II [J].
Ma, Jing ;
Zhang, Zhen ;
Jiang, Hong-Chao ;
Sun, Hao ;
Ming, Cheng ;
Zhao, Li-Ping ;
Gao, Ying-Qin ;
Li, Zheng-Cai ;
Sun, Mei-Hua ;
Xiao, Yang ;
Wu, Guo-Li ;
Zhang, Tie-Song ;
Ruan, Biao .
MOLECULAR MEDICINE REPORTS, 2019, 19 (03) :1775-1780