A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome

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...

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Bibliographic Details
Published in:Annals of neurology 2001-10, Vol.50 (4), p.537-540
Main Authors: Swerdlow, Russell H., Wooten, G. Frederick
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Deafness - genetics
Diseases of striated muscles. Neuromuscular diseases
Dystonia - genetics
Family Health
Female
Gene Deletion
Heterozygote
Humans
Male
Medical sciences
Membrane Transport Proteins
Neurology
Pedigree
Proteins - genetics
X Chromosome
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Summary: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.
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.1160