ArticleBMC medical genetics2014
Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 28 citations in OpenAlex.
- From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.Diagnostics (Basel, Switzerland) · 2026Article
- 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
- Neonatal polycystic kidney disease: a novel variant.BMJ case reports · 2021Article
- Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease.Molecular genetics & genomic medicine · 2020Article
- Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.Frontiers in genetics · 2020Article
- Analysis of mutations in six Chinese families with autosomal dominant polycystic kidney disease.American journal of translational research · 2020Article
- Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.Molecular genetics & genomic medicine · 2019Article
- Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease.Molecular medicine reports · 2019Article
- PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.Scientific reports · 2019Article
- Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.BMC medical genetics · 2018Article
- Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.BMC nephrology · 2018Article
- Mutational screening of PKD2 gene in the north Indian polycystic kidney disease patients revealed 28 genetic variations.Journal of genetics · 2017Article
- Article
- System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.Scientific reports · 2016Article
- Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.Scientific reports · 2015Article
- Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.BMC medical genetics · 2014Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder caused by mutation in either one of two genes, PKD1 and PKD2. High structural and sequence complexity of PKD genes makes the mutational diagnostics of ADPKD challenging. The present study is the first detailed analysis of both PKD genes in a cohort of Czech patients with ADPKD using High Resolution Melting analysis (HRM) and Multiplex Ligation-dependent Probe Amplification (MLPA).
methodsThe mutational analysis of PKD genes was performed in a set of 56 unrelated patients. For mutational screening of the PKD1 gene, the long-range PCR (LR-PCR) strategy followed by nested PCR was used. Resulting PCR fragments were analyzed by HRM; the positive cases were reanalyzed and confirmed by direct sequencing. Negative samples were further examined for sequence changes in the PKD2 gene by the method of HRM and for large rearrangements of both PKD1 and PKD2 genes by MLPA.
resultsScreening of the PKD1 gene revealed 36 different likely pathogenic germline sequence changes in 37 unrelated families/individuals. Twenty-five of these sequence changes were described for the first time. Moreover, a novel large deletion was found within the PKD1 gene in one patient. Via the mutational analysis of the PKD2 gene, two additional likely pathogenic mutations were detected.
conclusionsProbable pathogenic mutation was detected in 71% of screened patients. Determination of PKD mutations and their type and localization within corresponding genes could help to assess clinical prognosis of ADPKD patients and has major benefit for prenatal and/or presymptomatic or preimplantational diagnostics in affected families as well.
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