title: A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome.
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 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 interfere 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.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, China.
authors.forename: Xue-Ping
authors.initials: XP
authors.lastname: Chen
authors.forename: Yang-Wei
authors.initials: YW
authors.lastname: Zhang
authors.forename: Shu-Shan
authors.initials: SS
authors.lastname: Zhang
authors.forename: Qin
authors.initials: Q
authors.lastname: Chen
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Burgunder
authors.forename: Shu-Hui
authors.initials: SH
authors.lastname: Wu
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yang
authors.forename: Zu-Ming
authors.initials: ZM
authors.lastname: Luo
authors.forename: Hui-Fang
authors.initials: HF
authors.lastname: Shang
mesh_terms: D000293:Adolescent; D002648:Child; D002681:China / Q000453:epidemiology; D018389:Codon, Nonsense; D020821:Dystonic Disorders / Q000208:ethnology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D016254:Mutagenesis, Insertional; D009207:Myoclonus / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D020871:RNA Stability; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D049031:Sarcoglycans / Q000235:genetics* / Q000502:physiology
chemical_list: D018389:Codon, Nonsense; D012333:RNA, Messenger; D049031:Sarcoglycans