title: A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome.
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.
authors.affiliation: Department of Neurology and the Center for the Study of Neurodegenerative Diseases, University of Virginia Health System, Charlottesville, USA. rhs7e@virginia.edu
authors.forename: R H
authors.initials: RH
authors.lastname: Swerdlow
authors.forename: G F
authors.initials: GF
authors.lastname: Wooten
mesh_terms: D000328:Adult; D003638:Deafness / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D014960:X Chromosome
chemical_list: D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D011506:Proteins; C118122:TIMM8A protein, human