A new mutation of GCH1 in triplets family with dopa-responsive dystonia
Article first published online: 31 JAN 2011
© 2011 The Author(s). European Journal of Neurology © 2011 EFNS
European Journal of Neurology
Volume 18, Issue 9, pages 1191–1193, September 2011
How to Cite
Tachi, N., Takahashi, S., Jo, M. and Shinoda, M. (2011), A new mutation of GCH1 in triplets family with dopa-responsive dystonia. European Journal of Neurology, 18: 1191–1193. doi: 10.1111/j.1468-1331.2011.03354.x
- Issue published online: 11 AUG 2011
- Article first published online: 31 JAN 2011
- Received 29 October 2010 Accepted 15 December 2010
- dopa-responsive dystonia;
- new GCH1 gene mutation;
Background: Dopa-responsive dystonia (DRD) is associated with mutations of the GCH1. We first report four female siblings with DRD from one family, including three monozygotic triplets patients clinically and genetically.
Methods: We performed GCH1 analysis by direct sequencing of PCR product amplified with primers designed to cover the entire exons of GCH1 in those four patients and their mother.
Results: In all four patients with DRD, a new frameshift mutation (c.729delG; p.A190fsX191) was identified in the exon 5 of GCH1.
Conclusions: The frameshift mutation results in truncated GCH1 protein which is suspected to result in loss of function of the catalytic GTP-cyclohydrol domain.