A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr‐Tranebjaerg syndrome
- 10 August 2001
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 50 (4) , 537-540
- https://doi.org/10.1002/ana.1160
Abstract
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.Keywords
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