TIMM8A gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Translocase of inner mitochondrial membrane 8A
  • Involved in protein import into mitochondria
Clinical phenotype
(OMIM phenotype no.)
  • Deafness-dystonia-optic neuropathy syndrome (DDON) (#304700)
Inheritance
  • X-linked recessive
Ocular features
  • Optic atrophy
Visual function
  • Progressive vision loss
Systemic features
  • Sensorineural deafness
  • Dystonia
Key investigations
  • Genetic testing: identification of TIMM8A mutations
  • Audiometric and neurological assessments
Management
  • Multidisciplinary approach including audiology, neurology, and ophthalmology
Therapies under research
  • None currently specified

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References

  1.  Neighbors A, Moss T, Holloway L, Yu SH, Annese F, Skinner S, Saneto R, Steet R. Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome. Molecular Genetics & Genomic Medicine. 2020 Mar;8(3):e1121.

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Updated on July 5, 2024
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