A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes

Neuromuscul Disord. 2008 Dec;18(12):979-81. doi: 10.1016/j.nmd.2008.09.009. Epub 2008 Oct 25.

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

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Deafness / complications
  • Deafness / genetics*
  • Dystonia / complications
  • Dystonia / genetics*
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Mitochondrial Membrane Transport Proteins / genetics
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction
  • Spain
  • Syndrome
  • Young Adult

Substances

  • Membrane Transport Proteins
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Precursor Protein Import Complex Proteins
  • TIMM8A protein, human