A Novel Mutation in Exon 6 of the Epsilon-Sarcoglycan Gene in Myoclonus Dystonia Syndrome
- *Corresponding Author:
- Gulcin Benbir
Istanbul University Cerrahpasa Faculty of Medicine
Department of Neurology, 34098, Istanbul, Turkey
Tel: +90 (533) 226 37 97
Fax: +90 (212) 632 96 96
E-mail: [email protected]
Received date: January 10, 2012; Accepted date: June 06, 2012; Published date:June 10, 2012
Citation: Apaydin H, Benbir G, Ozelius L, Ozekmekci S (2012) A Novel Mutation in Exon 6 of the Epsilon-Sarcoglycan Gene in Myoclonus Dystonia Syndrome. Hereditary Genet 1:110. doi: 10.4172/2161-1041.1000110
Copyright: © 2012 Apaydin H, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Myoclonus-dystonia syndrome (MDS) is a rare hereditary movement disorder characterized by the early onset of myoclonus in the first or second decade of life. The first locus for MDS was mapped to chromosome 7q21 and identified as the epsilon-sarcoglycan (SGCE) gene, and numerous mutations were subsequently identified. We here present the first reported Turkish MDS patient identified with a novel mutation in exon 6 of the SGCE gene, which resulted in truncation of the protein before the transmembrane domain, presumably causing the loss of function either by mislocalization of the protein away from the plasma membrane or through nonsense-mediated decay.