Helen Ling and James M. Polke contributed equally to this article.
An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family
Article first published online: 1 FEB 2011
Copyright © 2011 Movement Disorder Society
Volume 26, Issue 5, pages 905–909, April 2011
How to Cite
Ling, H., Polke, J. M., Sweeney, M. G., Haworth, A., Sandford, C. A., Heales, S. J.R., Wood, N. W., Davis, M. B. and Lees, A. J. (2011), An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family. Mov. Disord., 26: 905–909. doi: 10.1002/mds.23593
- Issue published online: 21 APR 2011
- Article first published online: 1 FEB 2011
- Manuscript Accepted: 22 NOV 2010
- Manuscript Revised: 16 NOV 2010
- Manuscript Received: 28 SEP 2010
- dopa-responsive dystonia;
- restless leg syndrome;
- GCH1 duplication;
- novel mutation
Autosomal dominant dopa-responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase-1 gene.
We report a British family that has been followed for more than 20 years in which no mutations were previously identified.
Reanalysis of this pedigree detected a duplication of guanosine triphosphate cyclohydrolase-1 exon 2 in affected family members. mRNA analysis showed a mutant transcript with a tandem exon 2 duplication. Four family members developed dopa-responsive dystonia, with onset in their late teens, and subsequently developed restless leg syndrome and migraine.
This is the first report of an intragenic guanosine triphosphate cyclohydrolase-1 duplication in a dopa-responsive dystonia family. © 2011 Movement Disorder Society