Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.
Primary dystonias represent a clinically and genetically heterogeneous group of movement disorders. Mutations in the epsilon-sarcoglycan (SGCE) gene have been found recently to cause myoclonus-dystonia (MD). Considerable clinical variation of SGCE mutation carriers leads to the hypothesis that mutations in the SGCE gene might also be relevant for other subtypes of dystonias. To determine the contribution of mutations in the SGCE gene in patients with different subtypes of dystonias, we analyzed the coding sequence of the SGCE gene in a group of 296 patients with a clinical phenotype of primary dystonia and in 2 patients with a clinical phenotype of myoclonus-dystonia. Patients with mutations in the DYT1 gene were excluded. We could not detect a mutation in the SGCE gene in any of the 298 patients. Our results suggest that mutations in the SGCE gene cannot be held responsible for other subtypes of primary dystonia.
Grundmann
Kathrin
K
Department of Medical Genetics, University of Tübingen, Tübingen, Germany. kathrin.grundmann@onlinehome.de
Laubis-Herrmann
Ulrike
U
Dressler
Dirk
D
Vollmer-Haase
Juliane
J
Bauer
Peter
P
Stuhrmann
Manfred
M
Schulte
Thorsten
T
Schöls
Ludger
L
Topka
Helge
H
Riess
Olaf
O
D000328:Adult; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000145:classification / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000145:classification / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D049031:Sarcoglycans / Q000235:genetics*
D049031:Sarcoglycans