ArticleAmerican journal of human genetics2012
Copy-number disorders are a common cause of congenital kidney malformations.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 141 papers.
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Who cites it
141 citing papers in PubMed, 231 citations in OpenAlex.
- Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.Pediatric nephrology (Berlin, Germany) · 2024Trial
- Prenatal body fluid analysis in the evaluation of CAKUT.Pediatric nephrology (Berlin, Germany) · 2026Review
- Clinical impact of genetic testing in inherited kidney diseases.Clinical kidney journal · 2026Article
- A review of congenital anomalies of the kidney and urinary tract (CAKUT) in Africa.Annals of medicine and surgery (2012) · 2026Review
- Dose-Dependent and Non-Autonomous Signaling in CAKUT: A Lineage-Specific Framework from Conditional Knockout Studies.Biomolecules · 2026Review
- A method for characterizing disease progression from acute kidney injury to chronic kidney disease.Journal of biomedical informatics · 2025Article
- Genetic analysis of two bladder exstrophy populations of South Asian and North American origin.Journal of pediatric urology · 2025Article
- Functional Characterization of a NovelGenes · 2025Article
- Large-Scale Gene-Smoking Interactions and Fine Mapping Study Identifies Multiple Novel Blood Pressure Loci in over 1 Million Individuals.medRxiv : the preprint server for health sciences · 2025Article
- Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.Pediatric nephrology (Berlin, Germany) · 2025Review
- Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.Orphanet journal of rare diseases · 2025Article
- Ureter development and associated congenital anomalies.Nature reviews. Nephrology · 2025Review
- Article
- Review
- Review
- Copy number variation analysis identifies MIR9-3 and MIR1299 as novel miRNA candidate genes for CAKUT.Pediatric nephrology (Berlin, Germany) · 2024Article
- The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years.Clinical kidney journal · 2024Article
- BugSigDB captures patterns of differential abundance across a broad range of host-associated microbial signatures.Nature biotechnology · 2024Article
- Exploring the impact and utility of genomic sequencing in established CKD.Clinical kidney journal · 2024Review
- Genetic and environmental factors driving congenital solitary functioning kidney.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2024Article
81 more citing papers are in PubMed but not listed here.
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Authors and funding
56 authors at 18 institutions in 7 countries.
Funding
Abstract
We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 × 10(-11)). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) RHD cases harbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13,839 population controls (p = 1.2 × 10(-58)). Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from or extremely rare in the 13,839 population controls, identifying 38 potential novel or rare genomic disorders for this trait. Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent. However, the majority of disorders were detected in a single individual. Genomic disorders were detected in 22.5% of individuals with multiple malformations and 14.5% of individuals with isolated urinary-tract defects; 14 individuals harbored two or more diagnostic or rare CNVs. Strikingly, the majority of the known CNV disorders detected in the RHD cohort have previous associations with developmental delay or neuropsychiatric diseases. Up to 16.6% of individuals with kidney malformations had a molecular diagnosis attributable to a copy-number disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances. A search for pathogenic CNVs should be considered in this population for the diagnosis of their specific genomic disorders and for the evaluation of the potential for developmental delay.
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