ArticleClinical and experimental nephrology2018
Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.
Article in Clinical and experimental nephrology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 30 citations in OpenAlex.
- Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.Molecular genetics & genomic medicine · 2019Trial
- Co-localization of IgG with nephrin in immune-mediated idiopathic nephrotic syndrome.Clinical and experimental nephrology · 2025Article
- Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China.Frontiers in genetics · 2025Article
- In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.Pediatric nephrology (Berlin, Germany) · 2024Article
- Genotype-phenotype correlations in children with Gitelman syndrome.Clinical and experimental nephrology · 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
- Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.Clinical and experimental nephrology · 2022Article
- The Contribution ofFrontiers in medicine · 2022Review
- mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing.Scientific reports · 2021Article
- Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.Clinical genetics · 2021Article
- Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome.Kidney research and clinical practice · 2020Review
- A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome.CEN case reports · 2020Article
- Clinical and genetic variability of PAX2-related disorder in the Japanese population.Journal of human genetics · 2020Article
- Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.Scientific reports · 2020Article
- Clinical characteristics of HNF1B-related disorders in a Japanese population.Clinical and experimental nephrology · 2019Article
- INDEX-db: The Indian Exome Reference Database (Phase I).Journal of computational biology : a journal of computational molecular cell biology · 2019Article
- A review of clinical characteristics and genetic backgrounds in Alport syndrome.Clinical and experimental nephrology · 2019Review
- First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data.BMC genomics · 2018Article
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20 authors at 7 institutions in 1 country.
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Abstract
backgroundComprehensive genetic approaches for diagnosing inherited kidney diseases using next-generation sequencing (NGS) have recently been established. However, even with these approaches, we are still failing to detect gene defects in some patients who appear to suffer from genetic diseases. One of the reasons for this is the difficulty of detecting copy number variations (CNVs) using our current approaches. For such cases, we can apply methods of array-based comparative genomic hybridization (aCGH) or multiplex ligation and probe amplification (MLPA); however, these are expensive and laborious and also often fail to identify CNVs. Here, we report seven cases with CNVs in various inherited kidney diseases screened by NGS pair analysis.
methodsTargeted sequencing analysis for causative genes was conducted for cases with suspected inherited kidney diseases, for some of which a definitive genetic diagnosis had not been achieved. We conducted pair analysis using NGS data for those cases. When CNVs were detected by pair analysis, they were confirmed by aCGH and/or MLPA.
resultsIn seven cases, CNVs in various causative genes of inherited kidney diseases were detected by pair analysis. With aCGH and/or MLPA, pathogenic CNV variants were confirmed: COL4A5 or HNF1B in two cases each, and EYA1, CLCNKB, or PAX2 in one each.
conclusionWe presented seven cases with CNVs in various genes that were screened by pair analysis. The NGS-based CNV detection method is useful for comprehensive screening of CNVs, and our results revealed that, for a certain proportion of cases, CNV analysis is necessary for accurate genetic diagnosis.
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