ArticleClinical and experimental nephrology2019
Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene.
Article in Clinical and experimental nephrology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Kidney outcomes of coenzyme Q10 supplementation in patients with genetically confirmed CoQ10 nephropathy in Japan.Clinical and experimental nephrology · 2026Observational
- Clinical and Genetic Insights Into Isolated Proteinuria WithKidney international reports · 2026Article
- Potential involvement of abnormal splicing in severe WT1-related disorders.Clinical and experimental nephrology · 2025Article
- Comprehensive review of mitochondrial nephropathy-a renal phenotype in mitochondrial disease: causative genes, clinical and pathological features, diagnosis, prognosis, and treatment.Clinical and experimental nephrology · 2025Review
- In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.Pediatric nephrology (Berlin, Germany) · 2024Article
- Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.Pediatric nephrology (Berlin, Germany) · 2024Article
- Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2021Review
- A Family Segregating Lethal Primary Coenzyme Q10 Deficiency Due to Two NovelFrontiers in genetics · 2021Article
- Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay.Molecular genetics & genomic medicine · 2020Article
- Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.Clinical and experimental nephrology · 2020Article
- Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.Scientific reports · 2020Article
- Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene.Clinical and experimental nephrology · 2019Article
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18 authors.
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Abstract
backgroundRecently, comprehensive genetic approaches for steroid-resistant nephrotic syndrome (SRNS) using next-generation sequencing (NGS) have been established, but causative gene mutations could not be detected in almost 70% of SRNS patients. Main reason for the low variant detection rate is that most of them are SRNS caused not by genetic but by immunological factors. But some of them are probably because of the difficulty of detecting copy number variations (CNVs) in causative genes by NGS.
methodsIn this study, we performed two analytical methods of NGS data-dependent pair analysis and custom array comparative genomic hybridization (aCGH) in addition to NGS analysis in an infantile nephrotic syndrome case.
resultsWe detected only one known pathogenic heterozygous missense mutation in exon 7 of COQ6 c.782C > T, p.(Pro261Leu) by NGS. With pair analysis, heterozygous exon 1-2 deletion was suspected and was confirmed by custom aCGH. As a result, a small CNV was successfully detected in the COQ6 gene. Because we could detect variants in COQ6 and could start treatment by coenzyme Q10 (CoQ10) in his very early stage of SRNS, the patient achieved complete remission.
conclusionsThese relatively novel methods should be adopted in cases with negative results in gene tests by NGS analysis. Especially, in cases with CoQ10 deficiency, it is possible to delay initiating dialysis by starting treatment at their early stages.
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