ArticlePediatric nephrology (Berlin, Germany)2018
Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.
Article in Pediatric nephrology (Berlin, Germany), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 37 citations in OpenAlex.
- Mitochondrial Dysfunctions in Human Primary Coenzyme QBiomolecules · 2026Review
- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- Understanding coenzyme Q.Physiological reviews · 2024Review
- 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
- Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature.Clinical medicine insights. Case reports · 2023Article
- SKA2-mediated transcriptional downregulation of the key enzyme of CoQJournal of Cancer · 2023Article
- Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.NPJ genomic medicine · 2022Article
- A novelMolecular genetics and metabolism reports · 2022Article
- Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2021Review
- Disorders of Human Coenzyme Q10 Metabolism: An Overview.International journal of molecular sciences · 2020Review
- Redefining infantile-onset multisystem phenotypes of coenzyme QJournal of translational genetics and genomics · 2020Article
- Model system identification of novel congenital heart disease gene candidates: focus on RPL13.Human molecular genetics · 2019Article
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundA 7-month-old male infant was admitted because he was suffering from nephrotic syndrome, along with encephalomyopathy, hypertrophic cardiomyopathy, clinically suspected deafness and retinitis pigmentosa, and an elevated serum lactate level.
methodsCoenzyme Q
resultsThe results of genetic tests, available postmortem, explored two hitherto undescribed mutations in the PDSS2 gene. Both were located within the polyprenyl synthetase domain. Clinical exome sequencing revealed a heterozygous missense mutation in exon 3, and our in-house joint-analysis algorithm detected a heterozygous large 2923-bp deletion that affected the 5 prime end of exon 8. Other causative defects in the CoQ
conclusionsUntil now, the clinical features and the mutational status of 6 patients with a PDSS2 gene defect have been reported in the English literature. Here, we describe for the first time detailed kidney morphology features in a patient with nephrotic syndrome carrying mutations in the PDSS2 gene.
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