What does this research mean for the field?

Biallelic COX14 variants cause mitochondrial complex IV deficiency nuclear type 10 (MC4DN10) and can present with an attenuated encephalomyopathic phenotype with prolonged survival, expanding the known clinical spectrum of the disease. Novelty: ClaimNovelty.CONFIRMATORY. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

Characterize the clinical, biochemical, and genetic features of an individual with novel biallelic COX14 variants to clarify the gene-disease association with mitochondrial complex IV deficiency nuclear type 10.

August 29, 2026American Journal of Medical Genetics Part AOpen Access

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 ( MC4DN10 )

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Characterize the clinical, biochemical, and genetic features of an individual with novel biallelic COX14 variants to clarify the gene-disease association with mitochondrial complex IV deficiency nuclear type 10.
Clinical, radiographic, and biochemical evaluation of a 9-year-old male presenting with neurodevelopmental regression and suspected mitochondrial dysfunction.
Genetic analysis and muscle biopsy assessing cytochrome c oxidase enzymatic activity.
Identified compound heterozygous COX14 variants (c.82delT, p.Tyr28Thrfs*83 and c.3G>A, p.Met1?) accompanied by muscle cytochrome c oxidase activity reduced to 33% of the mean.
Documented an attenuated phenotype featuring survival to age 9, childhood-onset Leigh syndrome features on brain MRI, growth hormone deficiency, and ascending aortic dilation.

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Implication

Case report uncovers an attenuated encephalomyopathic phenotype in a pediatric patient with biallelic COX14 variants, strengthening the gene-disease link for MC4DN10.

Cite This Study

Awad et al. (2026) studied this question.

synapsesocial.com/papers/6a92991a8e5d7d1fc0c10da1 https://doi.org/10.1002/ajmg.a.70260

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Implication

Case report uncovers an attenuated encephalomyopathic phenotype in a pediatric patient with biallelic COX14 variants, strengthening the gene-disease link for MC4DN10.

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 ( MC4DN10 )

Key Points

Discussion

Implication

Cite This Study

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 ( MC4DN10 )

Key Points

Discussion

Implication

Cite This Study

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