C12orf65 gene


Gene (OMIM No.)
Function of gene/protein
  • Mitochondrial translation release factor
  • Involved in mitochondrial protein synthesis
Clinical phenotype
(OMIM phenotype no.)
  • Combined oxidative phosphorylation deficiency 7 (COXPD7) (#613541)
  • Autosomal recessive
Ocular features
  • Optic atrophy
Visual function
  • Progressive vision loss
Systemic features
  • Leigh-like syndrome
  • Spastic paraplegia
Key investigations
  • Genetic testing: identification of C12orf65 mutations
  • MRI: brain imaging to detect characteristic changes
  • Symptomatic treatment and supportive care
  • Regular neurological and ophthalmological follow-up
Therapies under research
  • None at present

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  1.  Heidary G, Calderwood L, Cox GF, Robson CD, Teot LA, Mullon J, Anselm I. Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. Journal of Neuro-ophthalmology. 2014 Mar 1;34(1):39-43.

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Updated on July 5, 2024
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