Exome analysis links kidney malformations to developmental disorders and reveals causal genes

Simple item page
dc.contributor.authorMilo Rasouly H.
dc.contributor.authorKrishna Murthy S.B.
dc.contributor.authorVena N.
dc.contributor.authorPovysil G.
dc.contributor.authorBeenken A.
dc.contributor.authorVerbitsky M.
dc.contributor.authorShril S.
dc.contributor.authorLekkerkerker I.
dc.contributor.authorYang S.
dc.contributor.authorKhan A.
dc.contributor.authorFasel D.
dc.contributor.authorWongboonsin J.
dc.contributor.authorMartino J.
dc.contributor.authorKe J.
dc.contributor.authorElefant N.
dc.contributor.authorTomar N.
dc.contributor.authorHarnof O.
dc.contributor.authorKisselev S.
dc.contributor.authorBheda S.
dc.contributor.authorReytan-Miron S.
dc.contributor.authorLim T.Y.
dc.contributor.authorJamry-Dziurla A.
dc.contributor.authorLugani F.
dc.contributor.authorZhang J.Y.
dc.contributor.authorMarasa M.
dc.contributor.authorKolupaeva V.
dc.contributor.authorGroopman E.E.
dc.contributor.authorJin G.
dc.contributor.authorGhavami I.
dc.contributor.authorStevens K.O.
dc.contributor.authorCoughlin A.C.
dc.contributor.authorKil B.H.
dc.contributor.authorChatterjee D.
dc.contributor.authorBradbury D.
dc.contributor.authorZheng J.
dc.contributor.authorMehl K.
dc.contributor.authorMorban M.
dc.contributor.authorReingold R.
dc.contributor.authorPiva S.
dc.contributor.authorMu X.
dc.contributor.authorMittrori A.
dc.contributor.authorSzmigielska A.
dc.contributor.authorGliwińska A.
dc.contributor.authorRanghino A.
dc.contributor.authorBomback A.S.
dc.contributor.authorBadenski A.
dc.contributor.authorLatos-Bielenska A.
dc.contributor.authorCapone V.
dc.contributor.authorMaterna-Kiryluk A.
dc.contributor.authorAmoroso A.
dc.contributor.authorIzzi C.
dc.contributor.authorLa Scola C.
dc.contributor.authorCohen D.J.
dc.contributor.authorSantoro D.
dc.contributor.authorDrozdz D.
dc.contributor.authorFiaccadori E.
dc.contributor.authorLin F.
dc.contributor.authorScolari F.
dc.contributor.authorTondolo F.
dc.contributor.authorLa Manna G.
dc.contributor.authorAppel G.B.
dc.contributor.authorGhiggeri G.M.
dc.contributor.authorZaza G.
dc.contributor.authorMontini G.
dc.contributor.authorMasnata G.
dc.contributor.authorKrzemien G.
dc.contributor.authorPisani I.
dc.contributor.authorRadhakrishnan J.
dc.contributor.authorZachwieja K.
dc.contributor.authorGesualdo L.
dc.contributor.authorBiancone L.
dc.contributor.authorMeneghesso D.
dc.contributor.authorMizerska-Wasiak M.
dc.contributor.authorTkaczyk M.
dc.contributor.authorZaniew M.
dc.contributor.authorBorszewska-Kornacka M.K.
dc.contributor.authorSzczepanska M.
dc.contributor.authorSaraga M.
dc.contributor.authorRao M.K.
dc.contributor.authorBodria M.
dc.contributor.authorMiklaszewska M.
dc.contributor.authorUy N.S.
dc.contributor.authorBaraldi O.
dc.contributor.authorBjanid O.
dc.contributor.authorEsposito P.
dc.contributor.authorZamboli P.
dc.contributor.authorMarzuillo P.
dc.contributor.authorCanetta P.A.
dc.contributor.authorSikora P.
dc.contributor.authorWestland R.
dc.contributor.authorCrew R.J.
dc.contributor.authorAlam S.
dc.contributor.authorGuarino S.
dc.contributor.authorNegrisolo S.
dc.contributor.authorHays T.
dc.contributor.authorMane S.
dc.contributor.authorGrandinetti V.
dc.contributor.authorTasic V.
dc.contributor.authorLozanovski V.J.
dc.contributor.authorCaliskan Y.
dc.contributor.correspondenceMilo Rasouly H.
dc.contributor.otherMahidol University
dc.date.accessioned2025-08-15T18:10:30Z
dc.date.available2025-08-15T18:10:30Z
dc.date.issued2025-12-01
dc.description.abstractCongenital anomalies of the kidneys and urinary tract (CAKUT) are developmental disorders that commonly cause pediatric chronic kidney disease and mortality. We examine here rare coding variants in 248 CAKUT trios and 1742 singleton CAKUT cases and compare them to 22,258 controls. Diagnostic and candidate diagnostic variants are detected in 14.1% of cases. We find a significant enrichment of rare damaging variants in constrained genes expressed during kidney development and in genes associated with other developmental disorders, suggesting phenotype expansion. Consistent with these data, 18% of CAKUT patients with diagnostic variants have neurodevelopmental or cardiac phenotypes. We identify 40 candidate genes, including CELSR1, SSBP2, XPO1, NR6A1, and ARID3A. Two are confirmed as CAKUT genes: ARID3A and NR6A1. This study suggests that many yet-unidentified syndromes would be discoverable with larger cohorts and cross-phenotype analysis, leading to clarification of the genetic and phenotypic spectrum of developmental disorders.
dc.identifier.citationNature Communications Vol.16 No.1 (2025)
dc.identifier.doi10.1038/s41467-025-62319-3
dc.identifier.eissn20411723
dc.identifier.scopus2-s2.0-105012742997
dc.identifier.urihttps://repository.li.mahidol.ac.th/handle/123456789/111619
dc.rights.holderSCOPUS
dc.subjectChemistry
dc.subjectBiochemistry, Genetics and Molecular Biology
dc.subjectPhysics and Astronomy
dc.subjectMultidisciplinary
dc.titleExome analysis links kidney malformations to developmental disorders and reveals causal genes
dc.typeArticle
mu.datasource.scopushttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=105012742997&origin=inward
oaire.citation.issue1
oaire.citation.titleNature Communications
oaire.citation.volume16
oairecerif.author.affiliationHarvard Medical School
oairecerif.author.affiliationUniversità degli Studi di Milano
oairecerif.author.affiliationBrigham and Women's Hospital
oairecerif.author.affiliationAlma Mater Studiorum Università di Bologna
oairecerif.author.affiliationUniversità degli Studi di Padova
oairecerif.author.affiliationYale School of Medicine
oairecerif.author.affiliationIcahn School of Medicine at Mount Sinai
oairecerif.author.affiliationWeill Cornell Medicine
oairecerif.author.affiliationUniversità degli Studi di Genova
oairecerif.author.affiliationAmsterdam UMC - University of Amsterdam
oairecerif.author.affiliationUniversity Medical Center Utrecht
oairecerif.author.affiliationUniversità degli studi di Bari Aldo Moro
oairecerif.author.affiliationColumbia University Irving Medical Center
oairecerif.author.affiliationUniversità degli Studi di Messina
oairecerif.author.affiliationUniversità degli Studi della Campania Luigi Vanvitelli
oairecerif.author.affiliationUniversità Politecnica delle Marche
oairecerif.author.affiliationUniversità degli Studi di Brescia
oairecerif.author.affiliationUniversità della Calabria
oairecerif.author.affiliationMedical University of Warsaw
oairecerif.author.affiliationFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
oairecerif.author.affiliationUniversitätsmedizin Mainz
oairecerif.author.affiliationIRCCS San Martino Polyclinic Hospital
oairecerif.author.affiliationSaint Louis University
oairecerif.author.affiliationJagiellonian University Medical College
oairecerif.author.affiliationPoznan University of Medical Sciences
oairecerif.author.affiliationSlaski Uniwersytet Medyczny w Katowicach
oairecerif.author.affiliationIRCCS Azienda Ospedaliero-Universitaria di Bologna
oairecerif.author.affiliationIstituto Italiano di Tecnologia
oairecerif.author.affiliationMedical University of Lublin
oairecerif.author.affiliationIstituto di Ricerche Farmacologiche Mario Negri
oairecerif.author.affiliationSiriraj Hospital
oairecerif.author.affiliationUniversità degli Studi di Torino, Scuola di Medicina
oairecerif.author.affiliationIstituto Giannina Gaslini
oairecerif.author.affiliationAzienda Ospedale Università Padova
oairecerif.author.affiliationSpedali Civili Di Brescia
oairecerif.author.affiliationAzienda Ospedaliera - Universitaria Città della Salute e della Scienza di Torino
oairecerif.author.affiliationUniwersytet Zielonogórski
oairecerif.author.affiliationAzienda Ospedaliero-Universitaria di Parma
oairecerif.author.affiliationPace University
oairecerif.author.affiliationSchool of Medicine, University of Split
oairecerif.author.affiliationInstytut Centrum Zdrowia Matki Polki
oairecerif.author.affiliationOspedale S. Maria delle Croci
oairecerif.author.affiliationAzienda Ospedaliera S.G. Moscati
oairecerif.author.affiliationAzienda Ospedaliera Brotzu
oairecerif.author.affiliationChildren’s National Hospital
oairecerif.author.affiliationEl Paso Children's Hospital
oairecerif.author.affiliationUniversity Children’s Hospital
oairecerif.author.affiliationAzienda Ospedaliera Universitaria delle Marche
oairecerif.author.affiliationPediatric Research Institute "Città della Speranza"
oairecerif.author.affiliationWaypoint Bio
oairecerif.author.affiliationPrimary Care Trust
oairecerif.author.affiliationChildhood and Adolescence Rimini. AUSL of Romagna

Files

Collections

Scopus 2025