ArticleJournal of the American Society of Nephrology : JASN2018
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
Abstract read
In one paragraph
Article in Journal of the American Society of Nephrology : JASN, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 121 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
121citing papers in PubMed, 1 pooled it
7.4field-weighted citation impact, top 2% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
121 citing papers in PubMed, 1 synthesis or guideline pooled it, 205 citations in OpenAlex.
- Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney international · 2022Guideline
- Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis.Molecular genetics & genomic medicine · 2026Article
- Article
- 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
- Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children.Children (Basel, Switzerland) · 2026Article
- Clinical and Molecular characteristics of kidney and urinary tract congenital anomalies in a cohort of Egyptian patients using whole-exome sequencing.Molecular biology reports · 2026Article
- Article
- Chronic Kidney Disease in Children with Suspected Genetic Etiology: Diagnostic Yield and Clinical Implications.Journal of personalized medicine · 2026Article
- Dose-Dependent and Non-Autonomous Signaling in CAKUT: A Lineage-Specific Framework from Conditional Knockout Studies.Biomolecules · 2026Review
- Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.Clinical journal of the American Society of Nephrology : CJASN · 2026Article
- Genetics of CAKUT.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- A compendium of chromatin interaction maps in the Giant Panda genome.Communications biology · 2026Article
- From Genes to Malformations: Molecular Mechanisms Driving the Pathogenesis of Congenital Anomalies of the Kidney and Urinary Tract.International journal of molecular sciences · 2025Review
- Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).European journal of human genetics : EJHG · 2025Article
- Functional Characterization of a NovelGenes · 2025Article
- TFAP2A orchestrates gene regulatory networks and tubular architecture in kidney outer medullary collecting ducts.JCI insight · 2025Article
- Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.Kidney international reports · 2025Article
- Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- The intelligent podocyte: sensing and responding to a complex microenvironment.Nature reviews. Nephrology · 2025Review
61 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
64 authors at 15 institutions in 10 countries.
Amelie T van der VenDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Dervla M ConnaughtonDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Hadas ItyelDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Nina MannDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Makiko NakayamaDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Jing ChenDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Asaf VivanteDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Daw-Yang HwangDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Julian SchulzDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Daniela A BraunDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Johanna Magdalena SchmidtDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
David SchapiroDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Ronen SchneiderDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Jillian K WarejkoDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Ankana DagaDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Amar J MajmundarDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Weizhen TanDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Tilman Jobst-SchwanDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Tobias HermleDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Eugen WidmeierDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Shazia AshrafDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Ali AmarDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Charlotte A HoogstraatenDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Hannah HugoDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Thomas M KitzlerDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Franziska KauseDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Caroline M KolvenbachDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Rufeng DaiDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Leslie SpaneasDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Kassaundra AmannDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Deborah R SteinDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Michelle A BaumDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Michael J G SomersDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Nancy M RodigDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Michael A FergusonDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Avram Z TraumDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Ghaleb H DaoukDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Radovan BogdanovićDepartment of Pediatric Nephrology, Institute for Mother and Child Health Care, Belgrade, Serbia.
Natasa StajićDepartment of Pediatric Nephrology, Institute for Mother and Child Health Care, Belgrade, Serbia.
Neveen A SolimanDepartment of Pediatrics, Center of Pediatric Nephrology and Transplantation, Cairo University, Egypt.
Jameela A KariDepartment of Pediatrics and.
Sherif El DesokyDepartment of Pediatrics and.
Hanan M FathyPediatric Nephrology Unit, University of Alexandria, Alexandria, Egypt.
Danko MilosevicUniversity of Zagreb School of Medicine, University Hospital Center Zagreb, Zagreb, Croatia.
Muna Al-SaffarDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Hazem S AwadPediatric Nephrology Department, Dubai Kidney Center Of Excellence, Dubai Hospital, Dubai, United Arab Emirates.
Loai A EidPediatric Nephrology Department, Dubai Kidney Center Of Excellence, Dubai Hospital, Dubai, United Arab Emirates.
Aravind SelvinDepartment of Pediatric Nephrology, Institute of Child Health and Hospital for Children, The Tamil Nadu Dr. M.G.R. Medical University, Chennai, Tamil Nadu, India.
Prabha SenguttuvanDepartment of Pediatric Nephrology, Dr. Mehta's Multi-Specialty Hospital, Chennai, Tamil Nadu, India.
Simone Sanna-CherchiDivision of Nephrology, Columbia University, New York, New York.
Heidi L RehmAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.
Daniel G MacArthurAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.
Monkol LekAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.
Kristen M LaricchiaProgram in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Michael W WilsonProgram in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Shrikant M ManeDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Richard P LiftonDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Richard S LeeDepartment of Urology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Stuart B BauerDepartment of Urology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Weining LuRenal Section, Department of Medicine and Pathology, Boston University Medical Center, Boston, Massachusetts.
Heiko M ReutterInstitute of Human Genetics and.ORCID 0000-0002-3591-5265
Velibor TasicMedical Faculty Skopje, University Children's Hospital, Skopje, Macedonia.
Shirlee ShrilDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Friedhelm HildebrandtDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; friedhelm.hildebrandt@childrens.harvard.edu.
Boston Children's Hospital · USBroad Institute · USDubai Hospital · AEInstitute of Public Health of Serbia · RSKing Abdulaziz University · SAYale University · USAlexandria University · EGBoston University · USCairo University · EGChildren's Clinical University Hospital · LVColumbia University · USMassachusetts General Hospital · USTamil Nadu Dr. M.G.R. Medical University · INUniversity Hospital Centre Zagreb · HRUniversity of Bonn · DE
Funding
Renal Physiology and Phenotyping CoreP30DK079310 · NIDDK · YALE UNIVERSITY · PI ARONSON, PETER S. · 2008 to 2022
$16.8MJoint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MRESEARCH TRAINING IN PEDIATRIC NEPHROLOGYT32DK007726 · NIDDK · CHILDREN'S HOSPITAL BOSTON · PI BRISCOE, DAVID M. · 1994 to 2023
$5.9MIdentification and function of new genes causing childhood nephrotic syndromeR01DK076683 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2007 to 2021
$5.3MNew genes and pathomechanisms of congenital abnormalities of the kidney (CAKUT)R01DK088767 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2010 to 2019
$3.4MGenomics of mammalian posterior urethral valvesR01DK115574 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SANNA-CHERCHI, SIMONE · 2017 to 2021
$2.9MMolecular Pathogenesis of Vesicoureteral RefluxR01DK078226 · NIDDK · BOSTON MEDICAL CENTER · PI LU, WEINING · 2008 to 2018
$2.5MGenetics of Congenital Obstructive UropathyR01DK103184 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SANNA-CHERCHI, SIMONE · 2014 to 2018
$2.3MEarly Validation of Urinary Biomarkers of Renal ObstructionR01DK096238 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI LEE, RICHARD SANG-YONG · 2013 to 2017
$1.3MHigh Performance Computing Instrumentation for the Yale Center for Genome AnalysisS10OD030363 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2022 to 2022
$1.2MNovel genomic and transcriptomic tools to study human congenital anomalies of the kidney and urinary tractP20DK116191 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARASA, MADDALENA · 2018 to 2019
$644kNHGRI NIH HHS U54 HG006504NHGRI NIH HHS UM1 HG008900NIDDK NIH HHS P20 DK116191NIDDK NIH HHS P30 DK079310NIDDK NIH HHS R01 DK076683NIDDK NIH HHS R01 DK078226NIDDK NIH HHS R01 DK088767NIDDK NIH HHS R01 DK096238NIDDK NIH HHS R01 DK103184NIDDK NIH HHS R01 DK115574NIDDK NIH HHS R56 DK096238NIDDK NIH HHS T32 DK007726NIH HHS S10 OD030363
Abstract
backgroundCongenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of kidney disease in the first three decades of life. Previous gene panel studies showed monogenic causation in up to 12% of patients with CAKUT.
methodsWe applied whole-exome sequencing to analyze the genotypes of individuals from 232 families with CAKUT, evaluating for mutations in single genes known to cause human CAKUT and genes known to cause CAKUT in mice. In consanguineous or multiplex families, we additionally performed a search for novel monogenic causes of CAKUT.
resultsIn 29 families (13%), we detected a causative mutation in a known gene for isolated or syndromic CAKUT that sufficiently explained the patient's CAKUT phenotype. In three families (1%), we detected a mutation in a gene reported to cause a phenocopy of CAKUT. In 15 of 155 families with isolated CAKUT, we detected deleterious mutations in syndromic CAKUT genes. Our additional search for novel monogenic causes of CAKUT in consanguineous and multiplex families revealed a potential single, novel monogenic CAKUT gene in 19 of 232 families (8%).
conclusionsWe identified monogenic mutations in a known human CAKUT gene or CAKUT phenocopy gene as the cause of disease in 14% of the CAKUT families in this study. Whole-exome sequencing provides an etiologic diagnosis in a high fraction of patients with CAKUT and will provide a new basis for the mechanistic understanding of CAKUT.
Indexed as
PedigreeAnimalsExome SequencingGenetic Predisposition to DiseaseHumansIncidenceKidneyMicePhenotypePrognosisRisk AssessmentSensitivity and SpecificitySex DistributionUrinary TractUrogenital AbnormalitiesVesico-Ureteral RefluxCongenital Anomalies of the Kidney and Urinary Tract (CAKUT)monogenic disease causationrenal developmental geneVesico-ureteral Reflux (VUR)Whole Exome Sequencing (WES)
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.