ArticleJournal of medical genetics2022
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
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Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19citing papers in PubMed
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19 citing papers in PubMed, 26 citations in OpenAlex.
- Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project.European journal of human genetics : EJHG · 2026Article
- Hereditary neurodegenerative disorders with spastic-ataxic manifestations: genetic and clinical insights into previously reported variants.Neurogenetics · 2026Article
- Spatial mapping of CoQ10 repletion by BPM31510 in a genetic mouse model (Coq4Journal of lipid research · 2026Article
- Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in theMolecular syndromology · 2025Article
- Identification of a newMolecular genetics and metabolism reports · 2025Article
- Renoprotective effects of coenzyme Q10 supplementation in patients with chronic kidney disease: a protocol for a systematic review.BMJ open · 2024Article
- Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.Movement disorders clinical practice · 2024Article
- Article
- Primary Coenzyme Q10 Deficiency-Related Ataxias.Journal of clinical medicine · 2024Review
- Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.CNS neuroscience & therapeutics · 2024Article
- Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review.Journal of pediatric endocrinology & metabolism : JPEM · 2024Review
- The role of CoQ10 in embryonic development.Journal of assisted reproduction and genetics · 2024Review
- Mitochondrial disease and epilepsy in children.Frontiers in neurology · 2024Review
- Comprehensive analysis of lactate-related gene profiles and immune characteristics in lupus nephritis.Frontiers in immunology · 2024Article
- The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review.Frontiers in pediatrics · 2024Article
- Primary Coenzyme Q10 Deficiency: An Update.Antioxidants (Basel, Switzerland) · 2023Review
- Biosynthesis, Deficiency, and Supplementation of Coenzyme Q.Antioxidants (Basel, Switzerland) · 2023Review
- Neuroimaging in Primary Coenzyme-QAntioxidants (Basel, Switzerland) · 2023Review
- Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle.Frontiers in physiology · 2022Article
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Authors and funding
37 authors at 15 institutions in 7 countries.
Lucia LaugwitzInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Annette SeibtDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Diran HerebianDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Susana PeraltaInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Imke KienzleDepartment of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany.
Rebecca BuchertInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Ruth FalbInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Darja GauckInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Amelie MüllerInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Mona GrimmelInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Stefanie Beck-WoedelInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Jan KernDepartment of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany.
Karim DaliriChild Developmental Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Pegah KatibehChild Developmental Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Katharina DanhauserInstitute of Human Genetics, Technische Universität München, Munich, Germany.
Steffen LeizPediatric Neurology, Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany.
Viola AlesiLaboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Fabian BaertlingDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Gessica VascoDepartment of Neuroscience and Neurorehabilitation, Unit of Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Robert SteinfeldUniversity Children's Hospital Zurich, Zurich, Switzerland.
Matias WagnerInstitute of Human Genetics, Technische Universität München, Munich, Germany.
Ahmet Okay CaglayanDepartment of Medical Genetics, School of Medicine, Dokuz Eylul University, Izmir, Turkey.ORCID 0000-0002-2332-322X
Hakan GumusDepartment of Pediatrics, Erciyes University School of Medicine, Kayseri, Turkey.
Margit BurmeisterMichigan Neuroscience Institute, University of Michigan, Ann Arbor, Michigan, USA.
Ertan MayatepekDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Diego MartinelliDivision of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Parag Mohan TamhankarCentre for Medical Genetics, Mulund, Mumbai, India.ORCID 0000-0003-3584-2382
Vasundhara TamhankarCentre for Medical Genetics, Mulund, Mumbai, India.
Pascal JosetMedical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, 4056 Basel, Switzerland.
Katharina SteindlInstitute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Anita RauchInstitute of Medical Genetics, University of Zurich, Zurich, Switzerland.ORCID 0000-0003-2930-3163
Penelope E BonnenHuman Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Tawfiq FroukhDepartment of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan.ORCID 0000-0002-2862-0733
Samuel GroeschelDepartment of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany.
Ingeborg Krägeloh-MannDepartment of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany.
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID 0000-0001-6033-4836
Felix DistelmaierDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany Felix.Distelmaier@med.uni-duesseldorf.de.ORCID 0000-0003-4304-7848
University of Tübingen · DEHeinrich Heine University Düsseldorf · DEBambino Gesù Children's Hospital · ITDeutsches Biomasseforschungszentrum · DEUniversity of Zurich · CHBaylor College of Medicine · USDokuz Eylül University · TRErciyes University · TRMünchen Klinik · DEPhiladelphia University · JOShiraz University of Medical Sciences · IRUniversity Children's Hospital Zurich · CHUniversity Hospital of Basel · CHUniversity of Cologne · DEUniversity of Michigan · US
Funding
Personalized Functional Genomics for Mitochondrial Encephalopathy Gene DiscoveryR01NS083726 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BONNEN, PENELOPE E · 2014 to 2025
$6.1MNINDS NIH HHS R01 NS083726
Abstract
backgroundHuman coenzyme Q4 (COQ4) is essential for coenzyme Q
methodsClinical course and neuroradiological findings in a large cohort of paediatric patients with COQ4 deficiency were analysed. Functional studies in patient-derived cell lines were performed.
resultsWe characterised 44 individuals from 36 families with COQ4 deficiency (16 newly described). A total of 23 different variants were identified, including four novel variants in
conclusionOur study describes the heterogeneous clinical presentation of COQ4 deficiency and identifies phenotypic subtypes. Cell-based studies support the pathogenic characteristics of
Indexed as
Mitochondrial ProteinsUbiquinoneCell LineChildHumansInfant, NewbornNeuroimagingPhenotypeCOQ4 protein, humanMitochondrial ProteinsUbiquinoneearly diagnosisepilepsynervous system diseasespediatrics
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