ArticleAmerican journal of human genetics2017
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Erratum issuedOpen access · bronzeAbstract read
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Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 46 papers.
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46citing papers in PubMed
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Who cites it
46 citing papers in PubMed, 106 citations in OpenAlex.
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- A de novo SALL4 mutation causes unilateral renal agenesis by misregulating genes involved in kidney development.Orphanet journal of rare diseases · 2025Article
- Clinical spectrum, genetics and management insights of PAX2-related disorder in nine children.European journal of medical research · 2025Article
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- Toward clinical exomes in diagnostics and management of male infertility.American journal of human genetics · 2024Article
- The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.Prenatal diagnosis · 2024Article
- The genetic etiologies of bilateral renal agenesis.Prenatal diagnosis · 2024Review
- Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.Frontiers in endocrinology · 2024Review
- The Clinical Application of Platelet-Rich Plasma in the Female Reproductive System: A Narrative Review.Life (Basel, Switzerland) · 2023Review
- Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.Kidney international reports · 2023Article
- Rare variant enrichment analysis supportsHGG advances · 2023Article
- Elevated Levels of Plasma Collagen Triple Helix Repeat Containing 1 (CTHRC1) Are Strongly Associated with eGFR and Albuminuria in Chronic Kidney Disease.Medicina (Kaunas, Lithuania) · 2023Article
- Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.Orphanet journal of rare diseases · 2022Article
- A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.BMC medical genomics · 2022Article
- Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome.Journal of clinical medicine · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
49 authors at 18 institutions in 5 countries.
Simone Sanna-CherchiDivision of Nephrology, Columbia University, New York, NY 10032, USA. Electronic address: ss2517@cumc.columbia.edu.
Kamal KhanCenter for Human Disease Modeling, Duke University, Durham, NC 27701, USA.
Rik WestlandDivision of Nephrology, Columbia University, New York, NY 10032, USA; Department of Pediatric Nephrology, VU University Medical Center, Amsterdam 1007 MB, the Netherlands.
Priya KrithivasanDivision of Nephrology, Columbia University, New York, NY 10032, USA.
Lorraine FievetCenter for Human Disease Modeling, Duke University, Durham, NC 27701, USA.
Hila Milo RasoulyDivision of Nephrology, Columbia University, New York, NY 10032, USA.
Iuliana Ionita-LazaDepartment of Biostatistics, Columbia University, New York, NY 10032, USA.
Valentina P CaponeDivision of Nephrology, Columbia University, New York, NY 10032, USA.
David A FaselDivision of Nephrology, Columbia University, New York, NY 10032, USA.
Krzysztof KirylukDivision of Nephrology, Columbia University, New York, NY 10032, USA.
Sitharthan KamalakaranInstitute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA.
Monica BodriaDivision of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa 16147, Italy.
Edgar A OttoUniversity of Michigan School of Medicine, Department of Internal Medicine-Nephrology, Ann Arbor, MI 48109, USA.
Matthew G SampsonUniversity of Michigan School of Medicine, Department of Pediatrics-Nephrology, Ann Arbor, MI 48109, USA.
Christopher E GilliesUniversity of Michigan School of Medicine, Department of Pediatrics-Nephrology, Ann Arbor, MI 48109, USA.
Virginia Vega-WarnerUniversity of Michigan School of Medicine, Department of Pediatrics-Nephrology, Ann Arbor, MI 48109, USA.
Katarina VukojevicDepartment of Anatomy, Histology, and Embryology, School of Medicine, University of Split, Split 21000, Croatia.
Igor PediaditakisCenter for Human Disease Modeling, Duke University, Durham, NC 27701, USA.
Gabriel S MakarDivision of Nephrology, Columbia University, New York, NY 10032, USA.
Adele MitrottiDivision of Nephrology, Columbia University, New York, NY 10032, USA.
Miguel VerbitskyDivision of Nephrology, Columbia University, New York, NY 10032, USA.
Jeremiah MartinoDivision of Nephrology, Columbia University, New York, NY 10032, USA.
Qingxue LiuDivision of Nephrology, Columbia University, New York, NY 10032, USA.
Young-Ji NaDivision of Nephrology, Columbia University, New York, NY 10032, USA.
Vinicio GojPediatric Unit, Fatebenefratelli Hospital, Milan 20121, Italy.
Gianluigi ArdissinoPediatric Nephrology and Dialysis Unit, Fondazione Ca' Granda IRCCS Ospedale Maggiore Policlinico Milano, 20122 Milan, Italy.
Maddalena GiganteDepartment of Medical and Surgical Sciences, University of Foggia, Foggia 71121, Italy.
Loreto GesualdoSection of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari 70121, Italy.
Magdalena JanezckoDepartment of Medical Genetics, Chair of Pediatrics, Jagiellonian University, Collegium Medicum, Krakow 31-008, Poland.
Marcin ZaniewChildren's Hospital, Poznan 61-825, Poland.
Cathy Lee MendelsohnDepartment of Urology, Pathology and Cell Biology, Genetics and Development, Columbia University, New York, NY 10032, USA.
Shirlee ShrilDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Friedhelm HildebrandtDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Joanna A E van WijkDepartment of Pediatric Nephrology, VU University Medical Center, Amsterdam 1007 MB, the Netherlands.
Adela ArapovicDepartment of Pediatrics, University Hospital of Split, Split 21000, Croatia.
Marijan SaragaDepartment of Pediatrics, University Hospital of Split, Split 21000, Croatia; School of Medicine, University of Split, Split 21000, Croatia.
Landino AllegriDepartment of Medicine and Surgery, University of Parma, Parma 43100, Italy.
Claudia IzziCattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari, Brescia 25018, Italy; Dipartimento Ostetrico Ginecologico, Azienda Ospedaliera Spedali Civili di Brescia, Brescia 25018, Italy.
Francesco ScolariCattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari, Brescia 25018, Italy.
Velibor TasicDepartment of Pediatric Nephrology, University Children's Hospital, Medical Faculty of Skopje, Skopje 1000, Macedonia.
Gian Marco GhiggeriDivision of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa 16147, Italy.
Anna Latos-BielenskaDepartment of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS, Poznan 61-701, Poland.
Anna Materna-KirylukDepartment of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS, Poznan 61-701, Poland.
Shrikant ManeDepartment of Human Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
David B GoldsteinInstitute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA.
Richard P LiftonDepartment of Human Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.
Nicholas KatsanisCenter for Human Disease Modeling, Duke University, Durham, NC 27701, USA.
Erica E DavisCenter for Human Disease Modeling, Duke University, Durham, NC 27701, USA. Electronic address: erica.davis@duke.edu.
Ali G GharaviDivision of Nephrology, Columbia University, New York, NY 10032, USA.
Columbia University · USDuke University · USUniversity of Michigan–Ann Arbor · USUniversity of Split · HRAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITColumbia University Irving Medical Center · USHarvard University · USIstituto Giannina Gaslini · ITPoznan University of Medical Sciences · PLAmsterdam UMC Location VUmc · NLFatebenefratelli Hospital · ITFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITHoward Hughes Medical Institute · USJagiellonian University · PLUniversity of Bari Aldo Moro · ITUniversity of Foggia · ITUniversity of Parma · ITYale University · US
Funding
Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MTranscriptional Regulation of Urothelial Differentiation During Homeostasis and Repair in Response to Urinary Tract InfectionU54DK104309 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI JONATHAN M. BARASCH, ALI G GHARAVI · 2014 to 2026
$17.7MRenal Physiology and Phenotyping CoreP30DK079310 · NIDDK · YALE UNIVERSITY · PI ARONSON, PETER S. · 2008 to 2022
$16.8MYale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MGenetics of Renal HypodyslasiaR01DK080099 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GHARAVI, ALI G · 2008 to 2023
$6.3MRenal Genomics CoreP30DK096493 · NIDDK · DUKE UNIVERSITY · PI PATEL, UPTAL D · 2012 to 2016
$5.9MGenetics of IgA nephropathy by integrative network-based association studiesR01DK105124 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Krzysztof Kiryluk · 2015 to 2026
$4.8MResearch Project 3P50DK096415 · NIDDK · DUKE UNIVERSITY · PI KATSANIS, NICHOLAS · 2012 to 2016
$4.2MAPOL1 - associated nephropathy from human-derived, intrarenal perspectiveR01DK108805 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MATTHEW Gordon SAMPSON, Simone Sanna-Cherchi · 2016 to 2026
$3.4MNew genes and pathomechanisms of congenital abnormalities of the kidney (CAKUT)R01DK088767 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2010 to 2019
$3.4MNovel Statistical methods for DNA Sequencing Data, and applications to Autism.R01MH095797 · NIMH · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI IONITA, IULIANA · 2012 to 2022
$3.1MNCATS NIH HHS UL1 TR000040NHGRI NIH HHS U54 HG006504NHGRI NIH HHS UM1 HG006504NIDDK NIH HHS P20 DK116191NIDDK NIH HHS P30 DK079310NIDDK NIH HHS P30 DK096493NIDDK NIH HHS P50 DK096415NIDDK NIH HHS R01 DK080099NIDDK NIH HHS R01 DK088767NIDDK NIH HHS R01 DK103184NIDDK NIH HHS R01 DK105124NIDDK NIH HHS R01 DK108805NIDDK NIH HHS R01 DK115574NIDDK NIH HHS U54 DK104309NIMH NIH HHS R01 MH095797
Abstract
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with RHD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, recapitulating phenotypes reported with Slit3 inactivation in the mouse. To identify genes associated with RHD, we performed an exome-wide association study with 195 unresolved case subjects and 6,905 control subjects. The top signal resided in GREB1L, a gene implicated previously in Hoxb1 and Shha signaling in zebrafish. The significance of the association, which was p = 2.0 × 10
Indexed as
AllelesAnimalsCase-Control StudiesClustered Regularly Interspaced Short Palindromic RepeatsCongenital AbnormalitiesExomeFemaleGenetic HeterogeneityGenome-Wide Association StudyGenotypeHeredityHomozygoteHumansKidneyKidney DiseasesMaleGREB1 protein, humanMembrane ProteinsNeoplasm ProteinsRNA, Long NoncodingCAKUTEYA1GATA3HNF1BHSPA4LPAX2SETBP1SIX5TWNT5A
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