Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 18499082.
- Also identified by DOI 10.1016/j.ajhg.2008.05.002 and PMC identifier 2427282.
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Abstract
Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX. Mutations of nucleus-encoded structural subunits were sought for but never found in COX-defective patients, leading to the conjecture that they may be incompatible with extra-uterine survival. We report a disease-associated mutation in one such subunit, COX6B1. Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency.
Medical subject headings
- Brain Diseases, Metabolic, Inborn
- Cytochrome-c Oxidase Deficiency
- Electron Transport Complex IV
- Point Mutation