ArticleAmerican journal of medical genetics. Part A2016
Rare copy number variants implicated in posterior urethral valves.
Article in American journal of medical genetics. Part A, 2016. 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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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- Claudin-17 Deficiency Drives Vascular Permeability and Inflammation Causing Lung Injury.International journal of molecular sciences · 2025Article
- Familial congenital lower urinary tract obstruction (LUTO) suggested by screening for lower urinary tract dysfunction in parents of patients: A descriptive study.Health science reports · 2024Article
- Maternal risk factors for posterior urethral valves.Frontiers in pediatrics · 2023Article
- The genetic basis of congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2022Review
- Article
- Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls.The Journal of molecular diagnostics : JMD · 2022Article
- Article
- Genome-wide association study in patients with posterior urethral valves.Frontiers in pediatrics · 2022Article
- Article
- Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.Frontiers in pediatrics · 2019Review
- Current strategies to predict and manage sequelae of posterior urethral valves in children.Pediatric nephrology (Berlin, Germany) · 2018Review
- Genetic basis of human congenital anomalies of the kidney and urinary tract.The Journal of clinical investigation · 2018Review
- Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.Birth defects research · 2017Article
- Copy number variants in Ebstein anomaly.PloS one · 2017Article
- Translational Research for Pediatric Lower Urinary Tract Dysfunction.International neurourology journal · 2016Review
- Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.PloS one · 2016Article
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Authors and funding
16 authors at 6 institutions in 1 country.
Funding
Abstract
The cause of posterior urethral valves (PUV) is unknown, but genetic factors are suspected given their familial occurrence. We examined cases of isolated PUV to identify novel copy number variants (CNVs). We identified 56 cases of isolated PUV from all live-births in New York State (1998-2005). Samples were genotyped using Illumina HumanOmni2.5 microarrays. Autosomal and sex-linked CNVs were identified using PennCNV and cnvPartition software. CNVs were prioritized for follow-up if they were absent from in-house controls, contained ≥ 10 consecutive probes, were ≥ 20 Kb in size, had ≤ 20% overlap with variants detected in other birth defect phenotypes screened in our lab, and were rare in population reference controls. We identified 47 rare candidate PUV-associated CNVs in 32 cases; one case had a 3.9 Mb deletion encompassing BMP7. Mutations in BMP7 have been associated with severe anomalies in the mouse urethra. Other interesting CNVs, each detected in a single PUV case included: a deletion of PIK3R3 and TSPAN1, duplication/triplication in FGF12, duplication of FAT1--a gene essential for normal growth and development, a large deletion (>2 Mb) on chromosome 17q that involves TBX2 and TBX4, and large duplications (>1 Mb) on chromosomes 3q and 6q. Our finding of previously unreported novel CNVs in PUV suggests that genetic factors may play a larger role than previously understood. Our data show a potential role of CNVs in up to 57% of cases examined. Investigation of genes in these CNVs may provide further insights into genetic variants that contribute to PUV.
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