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

Movement Disorders

Volumn 23, Issue 10, 2008, Pages 1472-1475

  Chen, Xue Ping ^a   Zhang, Yang Wei ^a   Zhang, Shu Shan ^a   Chen, Qin ^a   Burgunder, Jean Marc ^a,b   Wu, Shu Hui ^a   Yang, Yuan ^a   Luo, Zu Ming ^a   Shang, Hui Fang ^a  

^a SICHUAN UNIVERSITY   (China)

^b UNIVERSITY OF BERN   (Switzerland)

Author keywords

sarcoglycan gene; Gene mutation; Myoclonus dystonia syndrome

Indexed keywords

EPSILON SARCOGLYCAN; MESSENGER RNA; SARCOGLYCAN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DOWNSTREAM PROCESSING; EXON; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC STABILITY; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MALE; MOTOR DYSFUNCTION; MYOCLONUS DYSTONIA SYNDROME; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RNA INTERFERENCE; STOP CODON; ADOLESCENT; CASE REPORT; CHILD; CHINA; DYSTONIA; ETHNOLOGY; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION; GENETICS; HETEROZYGOTE; INTRON; METABOLISM; MYOCLONUS; PEDIGREE; PHENOTYPE; PHYSIOLOGY; POLYMERASE CHAIN REACTION; RNA STABILITY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; CHILD; CHINA; CODON, NONSENSE; DYSTONIC DISORDERS; EXONS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; INTRONS; MALE; MUTAGENESIS, INSERTIONAL; MYOCLONUS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA STABILITY; RNA, MESSENGER; SARCOGLYCANS;

EID: 52649156082     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22008     Document Type: Article

References (15)

1. Gasser T. Inherited myoclonus-dystonia syndrome. Adv Neurol 1998;78:325-334.
2. Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001;29:66-69.
3. Asmus F, Zimprich A, Du Tezenas M, et al. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Ann Neurol 2002;52:489-492.
4. Klein C, Liu L, Doheny D, et al. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. Ann Neurol 2002;52:675-679.
5. Hedrich K, Meyer EM, Schule B, et al. Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. Neurology 2004;62:1229-1231.
6. Muller B, Hedrich K, Kock N, et al. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 2002;71: 1303-1311.
7. Ettinger AJ, Feng G, Sanes JR. Epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D. J Biol Chem 1997;272:32534-32538.
8. Asmus F, Salih F, Hjermind LE, et al. Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. Ann Neurol 2005;58:792-797.
9. Tezenas MS, Clot F, Vidailhet M, et al. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet 2006;43:394-400.
10. Leung JC, Klein C, Friedman J, et al. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001;3:133-143.
11. Shang H, Clerc N, Lang D, Kaelin-Lang A, Burgunder JM. Clinical and molecular genetic evaluation of patients with primary dystonia. Eur J Neurol 2005;12:131-138.
12. Furukawa Y, Rajput AH. Inherited myoclonus-dystonia: how many causative genes and clinical phenotypes. Neurology 2002;59: 1130-1131.
13. Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 2004;5:89-99.
14. Lin S, Ramelli GP, Moser H, Gallati S, Burgunder JM. A novel insert mutation in gamma-sarcoglycan gene leads to severe childhood autosomal recessive muscular dystrophy. J Neurol 2002;249: 1608-1611.
15. Esapa CT, Waite A, Locke M, et al. SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Hum Mol Genet 2007;16:327-342.