A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome.
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.
Chen
Xue-Ping
XP
Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, China.
Zhang
Yang-Wei
YW
Zhang
Shu-Shan
SS
Chen
Qin
Q
Burgunder
Jean-Marc
JM
Wu
Shu-Hui
SH
Yang
Yuan
Y
Luo
Zu-Ming
ZM
Shang
Hui-Fang
HF
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
D018389:Codon, Nonsense; D012333:RNA, Messenger; D049031:Sarcoglycans