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Case report describes two siblings with axonal neuropathy due to compound heterozygous COA7 variants, indicating genetic factors in mitochondrial disease.
Variants in COA7 (cytochrome c oxidase assembly factor 7) are a rare cause of mitochondrial disease, with limited clinical descriptions and phenotypic variability. We describe 2 siblings carrying compound heterozygous COA7 variants, one of which (c.457C>T; p.Leu153Phe) is novel. Both presented with early-onset, slowly progressive axonal sensorimotor neuropathy, with differences in severity and associated features.
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Cicala et al. (2026) studied this question.
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