Abstract
Mohr-Tranebjaerg syndrome is a rare X-linked condition characterized by the association of dystonia and progressive postlingual sensorineural hearing impairment. Here we report the clinical and genetic findings in a Spanish patient with MTS carrying a novel mutation in the DDP1 (deafness-dystonia peptide 1) gene, which encodes TIMM8a, a component of the mitochondrial protein translocation system. The phenotypic variability observed in patients with Mohr-Tranebjaerg syndrome suggests the involvement of modifier factors which may modulate the clinical manifestations of the syndrome.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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DNA Mutational Analysis
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Deafness / complications
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Deafness / genetics*
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Dystonia / complications
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Dystonia / genetics*
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Humans
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Male
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Membrane Transport Proteins / genetics*
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Mitochondrial Membrane Transport Proteins / genetics
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Mitochondrial Precursor Protein Import Complex Proteins
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Mutation*
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Pedigree
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Polymerase Chain Reaction
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Spain
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Syndrome
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Young Adult
Substances
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Membrane Transport Proteins
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Mitochondrial Membrane Transport Proteins
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Mitochondrial Precursor Protein Import Complex Proteins
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TIMM8A protein, human