ArticleKidney international2020
Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.
Article in Kidney international, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 75 citations in OpenAlex.
- Primary results of the randomized trial of metformin administration in polycystic kidney disease (TAME PKD).Kidney international · 2021Trial
- Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion.Kidney international reports · 2026Review
- Designing genome editing experiments with EditABLE.Genome biology · 2026Article
- Clinical Variability of ADPKD in Monozygotic Twins.Kidney international reports · 2026Article
- Case Report: Functional validation of aFrontiers in genetics · 2026Article
- Characterization of Kidney and Liver Cystic Phenotype Associated with GANAB Using Advanced Imaging Biomarkers.Nephron · 2026Article
- Genomic and epigenomic landscape of ADPKD: towards precision diagnostics and tailored treatments.Frontiers in epigenetics and epigenomics · 2026Review
- Genetic testing in autosomal dominant polycystic kidney disease: why it matters in 2025.Clinical kidney journal · 2025Article
- Autosomal dominant polycystic kidney disease: an overview of recent genetic and clinical advances.Renal failure · 2025Review
- Characterizing the ADPKD-Kidney international reports · 2025Article
- Physiologic mechanisms underlying polycystic kidney disease.Physiological reviews · 2025Review
- Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.NPJ genomic medicine · 2025Article
- Overview of ADPKD in Pregnancy.Kidney international reports · 2025Review
- Article
- Approach to simple kidney cysts in children.Pediatric nephrology (Berlin, Germany) · 2024Review
- Biomarkers of Kidney Disease Progression in ADPKD.Kidney international reports · 2024Review
- Computational exploration of protein structure dynamics and RNA structural consequences of3 Biotech · 2024Article
- The Impact of Autosomal Dominant Polycystic Kidney Disease in Children: A Nephrological, Nutritional, and Psychological Point of View.Biomedicines · 2024Review
- How Does ADPKD Severity Differ Between Family Members?Kidney international reports · 2024Review
- End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy.Human genome variation · 2024Article
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21 authors at 8 institutions in 3 countries.
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Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited, progressive nephropathy accounting for 4-10% of end stage renal disease worldwide. PKD1 and PKD2 are the most common disease loci, but even accounting for other genetic causes, about 7% of families remain unresolved. Typically, these unsolved cases have relatively mild kidney disease and often have a negative family history. Mosaicism, due to de novo mutation in the early embryo, has rarely been identified by conventional genetic analysis of ADPKD families. Here we screened for mosaicism by employing two next generation sequencing screens, specific analysis of PKD1 and PKD2 employing long-range polymerase chain reaction, or targeted capture of cystogenes. We characterized mosaicism in 20 ADPKD families; the pathogenic variant was transmitted to the next generation in five families and sporadic in 15. The mosaic pathogenic variant was newly discovered by next generation sequencing in 13 families, and these methods precisely quantified the level of mosaicism in all. All of the mosaic cases had PKD1 mutations, 14 were deletions or insertions, and 16 occurred in females. Analysis of kidney size and function showed the mosaic cases had milder disease than a control PKD1 population, but only a few had clearly asymmetric disease. Thus, in a typical ADPKD population, readily detectable mosaicism by next generation sequencing accounts for about 1% of cases, and about 10% of genetically unresolved cases with an uncertain family history. Hence, identification of mosaicism is important to fully characterize ADPKD populations and provides informed prognostic information.
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