A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome
Article first published online: 10 AUG 2001
Copyright © 2001 Wiley-Liss, Inc.
Annals of Neurology
Volume 50, Issue 4, pages 537–540, October 2001
How to Cite
Swerdlow, R. H. and Wooten, G. F. (2001), A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome. Ann Neurol., 50: 537–540. doi: 10.1002/ana.1160
- Issue published online: 8 OCT 2001
- Article first published online: 10 AUG 2001
- Manuscript Accepted: 23 JUN 2001
- Manuscript Revised: 19 JUN 2001
- Manuscript Received: 30 APR 2001
- National Institute of Aging
- National Institute of Neurologic Diseases and Stroke
- American Parkinson's Disease Association
Sex-linked male deafness and dystonia (Mohr-Tranebjaerg syndrome) arises from mutation of the deafness/dystonia peptide (DDP) gene. We describe a novel guanine deletion at nucleotide 108 of the DDP gene in a family with Mohr-Tranebjaerg syndrome, which terminates this 97–amino acid protein at codon 25. Unlike previously reported kindreds, carrier females in this family also manifest dystonias, including torticollis and writer's cramp. A family history of male deafness should alert clinicians to the possibility of DDP mutation in women with focal dystonias.