Pia Winte and Christoph Kamm are joint first authors.
Article first published online: 31 OCT 2012
Copyright © 2012 Movement Disorder Society
Volume 27, Issue 14, pages 1820–1822, December 2012
How to Cite
Winter, P., Kamm, C., Biskup, S., Köhler, A., Leube, B., Auburger, G., Gasser, T., Benecke, R. and Müller, U. (2012), DYT7 gene locus for cervical dystonia on chromosome 18p is questionable. Mov. Disord., 27: 1820–1822. doi: 10.1002/mds.25219
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 31 DEC 2012
- Article first published online: 31 OCT 2012
- Manuscript Accepted: 30 AUG 2012
- Manuscript Revised: 23 AUG 2012
- Manuscript Received: 26 MAR 2012
- cervical dystonia;
- chromosome 18;
- exome sequencing
A locus implicated in autosomal dominant cervical dystonia was assigned to chromosome 18p in 1 large family more than 15 years ago. This locus was designated DYT7. We reanalyzed the family clinically and genetically.
Clinical reevaluation of all family members was performed. There was Sanger sequencing of candidate genes, SNP array analysis, and exome sequencing in definitely affected family members.
Diagnosis of cervical dystonia was definite in 6 family members and possible in 12. Analysis of candidate genes in 18p revealed no alteration in definitely affected patients. There was no disease causing copy number variant in 18p. No potentially disease-causing mutations were detected in 18p by exome sequencing. The CIZ1 gene, mutated in some cases of cervical dystonia, was excluded.
Location of DYT7 on 18p in autosomal dominant cervical dystonia is questionable. We demonstrate genetic heterogeneity of this form of dystonia. © 2012 Movement Disorder Society