ArticleAmerican journal of kidney diseases : the official journal of the National Kidney Foundation2008
Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.
Article in American journal of kidney diseases : the official journal of the National Kidney Foundation, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 75 citations in OpenAlex.
- Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.Renal failure · 2025Article
- Genetic and protein structure prediction analyses identify a rare pathogenic PKD1 variant causing autosomal dominant polycystic kidney disease.CEN case reports · 2025Article
- A Case of Horseshoe Kidney and Autosomal Dominant Polycystic Kidney Disease withJournal of clinical medicine · 2025Article
- Pathogenic Pathways and Therapeutic Strategies in Autosomal Dominant Polycystic Kidney Disease (ADPKD).Journal of cellular signaling · 2025Article
- Article
- Importance ofKidney international reports · 2024Article
- The genetic spectrum of polycystic kidney disease in children.Revista da Associacao Medica Brasileira (1992) · 2023Article
- Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.American journal of human genetics · 2022Article
- The GPCR properties of polycystin-1- A new paradigm.Frontiers in molecular biosciences · 2022Review
- Recent Discoveries in Epigenetic Modifications of Polycystic Kidney Disease.International journal of molecular sciences · 2021Review
- Demographic and clinical characteristics of children with autosomal dominant polycystic kidney disease: a single center experienceTurkish journal of medical sciences · 2021Article
- Characterization of Primary Cilia in Osteoblasts Isolated From Patients With ADPKD and CKD.JBMR plus · 2021Article
- Prostatic cyst in a pediatric patient with autosomal dominant polycystic kidney disease.BMJ case reports · 2021Article
- GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease.Frontiers in genetics · 2019Article
- ADPKD Progression in Patients With No Apparent Family History and No Mutation Detected by Sanger Sequencing.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2018Article
- Polycystic Kidney Disease without an Apparent Family History.Journal of the American Society of Nephrology : JASN · 2017Article
- Grayscale ultrasound characteristics of autosomal dominant polycystic kidney disease severity - an adult and pediatric cohort study.Journal of ultrasonography · 2017Article
- Genome-wide analysis of structural variants reveals genetic differences in Chinese pigs.PloS one · 2017Article
- Is Autosomal Dominant Polycystic Kidney Disease Becoming a Pediatric Disorder?Frontiers in pediatrics · 2017Review
- Is It Ethical to Test Apparently "Healthy" Children for Autosomal Dominant Polycystic Kidney Disease and Risk Medicalizing Thousands?Frontiers in pediatrics · 2017Article
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundAt the University of Colorado Health Sciences Center, on detailed questioning, approximately 10% of patients with autosomal dominant polycystic kidney disease (ADPKD) gave no family history of ADPKD. There are several explanations for this observation, including occurrence of a de novo pathogenic sequence variant or extreme phenotypic variability. To confirm de novo sequence variants, we have undertaken clinical and genetic screening of affected offspring and their parents. STUDY
designCase series. SETTING &
participants24 patients with a well-documented ADPKD phenotype and no family history of polycystic kidney disease (PKD) and both parents of each patient. OUTCOME: Presence or absence of PKD1 or PKD2 pathogenic sequence variants in parents of affected offspring. MEASUREMENTS: Abdominal ultrasound of affected offspring and their parents for ADPKD diagnosis. Parentage testing by genotyping. Complete screening of PKD1 and PKD2 genes by using genomic DNA from affected offspring; analysis of genomic DNA from both parents to confirm the absence or presence of all DNA variants found.
resultsA positive diagnosis of ADPKD by means of ultrasound or genetic screening was made in 1 parent of 4 patients (17%). No PKD1 or PKD2 pathogenic sequence variants were identified in 10 patients (42%), whereas possible pathological DNA variants were identified in 4 patients (17%) and 1 of their respective parents. Parentage was confirmed in the remaining 6 patients (25%), and de novo sequence variants were documented. LIMITATIONS: Size of patient group. No direct examination of RNA.
conclusionCauses other than de novo pathogenic sequence variants may explain the negative family history of ADPKD in certain families.
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