ArticleKidney international2008
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.
Article in Kidney international, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
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Who cites it
65 citing papers in PubMed.
- Can we further enrich autosomal dominant polycystic kidney disease clinical trials for rapidly progressive patients? Application of the PROPKD score in the TEMPO trial.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2018Trial
- From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.Diagnostics (Basel, Switzerland) · 2026Article
- Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome EncompassingJournal of clinical medicine · 2025Article
- A Case of TSC2/PKD1 Contiguous Gene Deletion Syndrome With Proven Kidney Pathology.Kidney medicine · 2025Article
- A case report of atypical autosomal dominant polycystic kidney disease presenting as glomerulocystic kidney superimposed with thin basement membrane nephropathy.BMC nephrology · 2025Article
- The prospect of novel orphan therapeutic protocol for TSC2/PKD1 contiguous gene syndrome: a case report.BMC nephrology · 2025Article
- Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis.NPJ genomic medicine · 2025Article
- Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.Journal of clinical medicine · 2024Article
- Cystic kidney disease in tuberous sclerosis complex: current knowledge and unresolved questions.Pediatric nephrology (Berlin, Germany) · 2023Article
- Atypical Polycystic Kidney Disease as defined by Imaging.Scientific reports · 2023Article
- Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.Medicina (Kaunas, Lithuania) · 2022Article
- Perfect match: mTOR inhibitors and tuberous sclerosis complex.Orphanet journal of rare diseases · 2022Review
- Article
- Novel method for the genomic analysis ofFrontiers in cell and developmental biology · 2022Article
- Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.Journal of nephrology · 2021Article
- Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants.Balkan medical journal · 2021Article
- Patients with Protein-TruncatingClinical journal of the American Society of Nephrology : CJASN · 2021Article
- Rapamycin and dexamethasone during pregnancy prevent tuberous sclerosis complex-associated cystic kidney disease.JCI insight · 2020Article
- Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.Kidney international · 2020Article
- Prognostic Performance of Kidney Volume Measurement for Polycystic Kidney Disease: A Comparative Study of Ellipsoid vs. Manual Segmentation.Scientific reports · 2019Article
5 more citing papers are in PubMed but not listed here.
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22 authors.
Funding
Abstract
Large DNA rearrangements account for about 8% of disease mutations and are more common in duplicated genomic regions, where they are difficult to detect. Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in either PKD1 or PKD2. PKD1 is located in an intrachromosomally duplicated region. A tuberous sclerosis gene, TSC2, lies immediately adjacent to PKD1 and large deletions can result in the PKD1/TSC2 contiguous gene deletion syndrome. To rapidly identify large rearrangements, a multiplex ligation-dependent probe amplification assay was developed employing base-pair differences between PKD1 and the six pseudogenes to generate PKD1-specific probes. All changes in a set of 25 previously defined deletions in PKD1, PKD2 and PKD1/TSC2 were detected by this assay and we also found 14 new mutations at these loci. About 4% of the ADPKD patients in the CRISP study were found to have gross rearrangements, and these accounted for about a third of base-pair mutation negative families. Sensitivity of the assay showed that about 40% of PKD1/TSC contiguous gene deletion syndrome families contained mosaic cases. Characterization of a family found to be mosaic for a PKD1 deletion is discussed here to illustrate family risk and donor selection considerations. Our assay improves detection levels and the reliability of molecular testing of patients with ADPKD.
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