ArticleScientific reports2017
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The efficacy of coenzyme QJournal of cellular and molecular medicine · 2022Pooled it
- Non-canonical role of natural quinones in mitochondrial nucleoid organization for maintaining respiration and protecting cardiac function.Journal of biochemistry · 2026Article
- Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.Clinical kidney journal · 2025Article
- Understanding coenzyme Q.Physiological reviews · 2024Review
- COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells.Molecular cell · 2024Article
- The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review.Frontiers in pediatrics · 2024Article
- Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.NPJ genomic medicine · 2023Article
- Primary Coenzyme Q10 Deficiency: An Update.Antioxidants (Basel, Switzerland) · 2023Review
- A novelMolecular genetics and metabolism reports · 2022Article
- Genetic evidence for the requirements of antroquinonol biosynthesis by Antrodia camphorata during liquid-state fermentation.Journal of industrial microbiology & biotechnology · 2022Article
- The CoQ biosynthetic di-iron carboxylate hydroxylase COQ7 is inhibited by in vivo metalation with manganese but remains functional by metalation with cobalt.microPublication biology · 2022Article
- Cellular Models for Primary CoQ Deficiency Pathogenesis Study.International journal of molecular sciences · 2021Review
- Minimal mitochondrial respiration is required to prevent cell death by inhibition of mTOR signaling in CoQ-deficient cells.Cell death discovery · 2021Article
- Article
- Primary Coenzyme Q10 Deficiency-7 and PathogenicFrontiers in genetics · 2021Review
- ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.Human genetics · 2020Article
- Article
- Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.European journal of human genetics : EJHG · 2019Article
- An Isoprene Lipid-Binding Protein Promotes Eukaryotic Coenzyme Q Biosynthesis.Molecular cell · 2019Article
- β-RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype inEMBO molecular medicine · 2019Article
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Authors and funding
3 authors.
Funding
Abstract
Primary ubiquinone (UQ) deficiency is an important subset of mitochondrial disease that is caused by mutations in UQ biosynthesis genes. To guide therapeutic efforts we sought to estimate the number of individuals who are born with pathogenic variants likely to cause this disorder. We used the NCBI ClinVar database and literature reviews to identify pathogenic genetic variants that have been shown to cause primary UQ deficiency, and used the gnomAD database of full genome or exome sequences to estimate the frequency of both homozygous and compound heterozygotes within seven genetically-defined populations. We used known population sizes to estimate the number of afflicted individuals in these populations and in the mixed population of the USA. We then performed the same analysis on predicted pathogenic loss-of-function and missense variants that we identified in gnomAD. When including only known pathogenic variants, our analysis predicts 1,665 affected individuals worldwide and 192 in the USA. Adding predicted pathogenic variants, our estimate grows to 123,789 worldwide and 1,462 in the USA. This analysis predicts that there are many undiagnosed cases of primary UQ deficiency, and that a large proportion of these will be in developing regions of the world.
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