ArticleClinical and experimental nephrology2019
Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients.
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 14 papers.
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- The diagnostic accuracy of ultrasound and genomic tests for the diagnosis of autosomal-dominant polycystic kidney disease: a systematic mapping review.Clinical kidney journal · 2025Article
- Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis.NPJ genomic medicine · 2025Article
- Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum.Genes · 2023Article
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- Article
- Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Mutation Type and Intracranial Aneurysm Formation in Autosomal Dominant Polycystic Kidney Disease.Stroke (Hoboken, N.J.) · 2022Article
- Germline Mutations for Kidney Volume in ADPKD.Kidney international reports · 2022Article
- Molecular Diagnostics of Ciliopathies and Insights Into Novel Developments in Diagnosing Rare Diseases.British journal of biomedical science · 2022Review
- Predicting liver cyst severity by mutations in patients with autosomal-dominant polycystic kidney disease.Hepatology international · 2021Article
- Dealing with Pseudogenes in Molecular Diagnostics in the Next Generation Sequencing Era.Methods in molecular biology (Clifton, N.J.) · 2021Review
- Association between anemia and renal prognosis in autosomal dominant polycystic kidney disease: a retrospective study.Clinical and experimental nephrology · 2020Article
- Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.Journal of clinical medicine · 2020Article
- Multiple primary malignant neoplasms: A case report and literature review.Oncology letters · 2019Article
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Authors and funding
11 authors at 2 institutions in 1 country.
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Abstract
backgroundAutosomal dominant polycystic kidney disease (ADPKD), one of the most common hereditary kidney diseases, causes gradual growth of cysts in the kidneys, leading to renal failure. Owing to the advanced technology of next-generation sequencing (NGS), genetic analyses of the causative genes PKD1 and PKD2 have been improved.
methodsWe performed genetic analyses of 111 Japanese ADPKD patients using hybridization-based NGS and long-range (LR)-PCR-based NGS. Additionally, genetic analyses in exon 1 of PKD1 using Sanger sequencing because of an extremely low coverage of NGS and those using multiplex ligation-dependent probe amplification (MLPA) were performed.
resultsThe detection rate using NGS for 111 patients was 86.5%. One mutation in exon 1 of PKD1 and five deletions detected by MLPA were identified. When combined, the total detection rate was 91.9%.
conclusionAlthough NGS is useful, we propose the addition of Sanger sequencing for exon 1 of PKD1 and MLPA as indispensable for identifying mutations not detected by NGS.
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