Cytochrome C Oxidase Deficiency / Leigh Syndrome (COX15)

Pathogenic variants in the gene COX15 cause autosomal recessive mitochondrial disorders due to cytochrome c oxidase deficiency.

  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2) is an infantile disorder with a rapidly progressive clinical course. The main features are hypotonia, lactic acidosis, massive biventricular cardiac hypertrophy, encephalopathy, and respiratory depression. Life expectancy is reduced.
  • Leigh syndrome due to cytochrome c oxidase deficiency is an early-onset progressive neurodegenerative disorder. Clinical features include failure to thrive, severe developmental delay, hypotonia, muscle wasting, seizures, nystagmus, and ophthalmoplegia.

No genotype/phenotype correlations have been documented.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):