{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T02:25:51Z","timestamp":1793413551418,"version":"4.5.0"},"reference-count":67,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JASN"],"published-print":{"date-parts":[[2018,9]]},"abstract":"\n Background<\/jats:title>\n Congenital 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.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n We 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.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n In 29 families (13%), we detected a causative mutation in a known gene for isolated or syndromic CAKUT that sufficiently explained the patient\u2019s 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%).<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n We 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.<\/jats:p>\n <\/jats:sec>","DOI":"10.1681\/asn.2017121265","type":"journal-article","created":{"date-parts":[[2018,8,24]],"date-time":"2018-08-24T08:55:24Z","timestamp":1535100924000},"page":"2348-2361","source":"Crossref","is-referenced-by-count":190,"title":["Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract"],"prefix":"10.1681","volume":"29","author":[{"given":"Amelie T.","family":"van der Ven","sequence":"first","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dervla M.","family":"Connaughton","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadas","family":"Ityel","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Mann","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makiko","family":"Nakayama","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asaf","family":"Vivante","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daw-yang","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Schulz","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela A.","family":"Braun","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna Magdalena","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Schapiro","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronen","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian K.","family":"Warejko","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankana","family":"Daga","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amar J.","family":"Majmundar","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weizhen","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tilman","family":"Jobst-Schwan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Hermle","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugen","family":"Widmeier","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shazia","family":"Ashraf","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Amar","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte A.","family":"Hoogstraaten","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Hugo","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas M.","family":"Kitzler","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franziska","family":"Kause","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline M.","family":"Kolvenbach","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rufeng","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie","family":"Spaneas","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kassaundra","family":"Amann","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah R.","family":"Stein","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle A.","family":"Baum","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.G.","family":"Somers","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy M.","family":"Rodig","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Ferguson","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avram Z.","family":"Traum","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghaleb H.","family":"Daouk","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radovan","family":"Bogdanovi\u0107","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Institute for Mother and Child Health Care, Belgrade, Serbia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasa","family":"Staji\u0107","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Institute for Mother and Child Health Care, Belgrade, Serbia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neveen A.","family":"Soliman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Cairo University, Egypt;"},{"name":"Egyptian Group for Orphan Renal Diseases, Cairo, Egypt;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jameela A.","family":"Kari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and"},{"name":"Pediatric Nephrology Center of Excellence, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherif","family":"El Desoky","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and"},{"name":"Pediatric Nephrology Center of Excellence, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanan M.","family":"Fathy","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Unit, University of Alexandria, Alexandria, Egypt;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danko","family":"Milosevic","sequence":"additional","affiliation":[{"name":"University of Zagreb School of Medicine, University Hospital Center Zagreb, Zagreb, Croatia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muna","family":"Al-Saffar","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"},{"name":"United Arab Emirates University, Abu Dhabi, United Arab Emirates;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hazem S.","family":"Awad","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Department, Dubai Kidney Center Of Excellence, Dubai Hospital, Dubai, United Arab Emirates;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loai A.","family":"Eid","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Department, Dubai Kidney Center Of Excellence, Dubai Hospital, Dubai, United Arab Emirates;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aravind","family":"Selvin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Institute of Child Health and Hospital for Children, The Tamil Nadu Dr. M.G.R. Medical University, Chennai, Tamil Nadu, India;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prabha","family":"Senguttuvan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Dr. Mehta\u2019s Multi-Specialty Hospital, Chennai, Tamil Nadu, India;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Sanna-Cherchi","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Columbia University, New York, New York;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi L.","family":"Rehm","sequence":"additional","affiliation":[{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel G.","family":"MacArthur","sequence":"additional","affiliation":[{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts;"},{"name":"Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monkol","family":"Lek","sequence":"additional","affiliation":[{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts;"},{"name":"Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen M.","family":"Laricchia","sequence":"additional","affiliation":[{"name":"Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael W.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shrikant M.","family":"Mane","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard P.","family":"Lifton","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut;"},{"name":"Rockefeller University, New York, New York;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard S.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Urology, Boston Children\u2019s Hospital and Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart B.","family":"Bauer","sequence":"additional","affiliation":[{"name":"Department of Urology, Boston Children\u2019s Hospital and Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weining","family":"Lu","sequence":"additional","affiliation":[{"name":"Renal Section, Department of Medicine and Pathology, Boston University Medical Center, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3591-5265","authenticated-orcid":false,"given":"Heiko M.","family":"Reutter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics and"},{"name":"Department of Neonatology and Pediatric Intensive Care, Children\u2019s Hospital, University of Bonn, Bonn, Germany; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velibor","family":"Tasic","sequence":"additional","affiliation":[{"name":"Medical Faculty Skopje, University Children\u2019s Hospital, Skopje, Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirlee","family":"Shril","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2018,8,24]]},"reference":[{"key":"B1-20230829","doi-asserted-by":"crossref","first-page":"2403","DOI":"10.1007\/s00467-014-2884-6","article-title":"Demographics of paediatric renal replacement therapy in Europe: A report of the ESPN\/ERA-EDTA registry.","volume":"29","author":"Chesnaye","year":"2014","journal-title":"Pediatr Nephrol"},{"key":"B3-20230829","first-page":"303","article-title":"Genetics of congenital anomalies of the kidneys and urinary tract.","volume":"29","author":"Vivante","year":"2016","journal-title":"Pediatr Nephrol"},{"key":"B4-20230829","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1007\/s00467-013-2684-4","article-title":"Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans.","volume":"29","author":"Vivante","year":"2014","journal-title":"Pediatr Nephrol"},{"key":"B5-20230829","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/ng0495-358","article-title":"Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.","volume":"9","author":"Sanyanusin","year":"1995","journal-title":"Nat Genet"},{"key":"B6-20230829","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1093\/hmg\/8.11.2001","article-title":"A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.","volume":"8","author":"Lindner","year":"1999","journal-title":"Hum Mol Genet"},{"key":"B7-20230829","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1111\/nep.12414","article-title":"Pattern of clinical presentation of congenital anomalies of the kidney and urinary tract among infants and children.","volume":"20","author":"Soliman","year":"2015","journal-title":"Nephrology (Carlton)"},{"key":"B8-20230829","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1046\/j.1523-1755.2002.00188.x","article-title":"Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT.","volume":"61","author":"Ichikawa","year":"2002","journal-title":"Kidney Int"},{"key":"B9-20230829","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1002\/wdev.52","article-title":"Genetic controls and cellular behaviors in branching morphogenesis of the renal collecting system.","volume":"1","author":"Costantini","year":"2012","journal-title":"Wiley Interdiscip Rev Dev Biol"},{"key":"B11-20230829","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1159\/000147846","article-title":"Mesenchyme to epithelium transition during development of the mammalian kidney tubule.","volume":"156","author":"Davies","year":"1996","journal-title":"Acta Anat (Basel)"},{"key":"B12-20230829","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/j.ajhg.2011.10.007","article-title":"Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome.","volume":"89","author":"Weber","year":"2011","journal-title":"Am J Hum Genet"},{"key":"B13-20230829","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1681\/ASN.2006111282","article-title":"SIX2 and BMP4 mutations associate with anomalous kidney development.","volume":"19","author":"Weber","year":"2008","journal-title":"J Am Soc Nephrol"},{"key":"B14-20230829","doi-asserted-by":"crossref","first-page":"2355","DOI":"10.1093\/ndt\/gfr649","article-title":"CHD1L: A new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).","volume":"27","author":"Brockschmidt","year":"2012","journal-title":"Nephrol Dial Transplant"},{"key":"B15-20230829","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1056\/NEJMoa1609009","article-title":"Genetic drivers of kidney defects in the DiGeorge syndrome.","volume":"376","author":"Lopez-Rivera","year":"2017","journal-title":"N Engl J Med"},{"key":"B16-20230829","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1056\/NEJMoa1214479","article-title":"Mutations in DSTYK and dominant urinary tract malformations.","volume":"369","author":"Sanna-Cherchi","year":"2013","journal-title":"N Engl J Med"},{"key":"B17-20230829","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1093\/hmg\/6.13.2247","article-title":"Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.","volume":"6","author":"Abdelhak","year":"1997","journal-title":"Hum Mol Genet"},{"key":"B18-20230829","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/ng0995-40","article-title":"Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis.","volume":"11","author":"Pandolfi","year":"1995","journal-title":"Nat Genet"},{"key":"B19-20230829","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/ng.2543","article-title":"Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.","volume":"45","author":"Kirby","year":"2013","journal-title":"Nat Genet"},{"key":"B20-20230829","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/j.ajhg.2007.10.008","article-title":"Renal aplasia in humans is associated with RET mutations.","volume":"82","author":"Skinner","year":"2008","journal-title":"Am J Hum Genet"},{"key":"B21-20230829","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1007\/s00439-015-1570-5","article-title":"Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.","volume":"134","author":"Hwang","year":"2015","journal-title":"Hum Genet"},{"key":"B22-20230829","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1002\/humu.21378","article-title":"Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.","volume":"31","author":"Gimelli","year":"2010","journal-title":"Hum Mutat"},{"key":"B23-20230829","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.ajhg.2015.07.001","article-title":"Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development.","volume":"97","author":"Vivante","year":"2015","journal-title":"Am J Hum Genet"},{"key":"B24-20230829","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1681\/ASN.2012121148","article-title":"TNXB mutations can cause vesicoureteral reflux.","volume":"24","author":"Gbadegesin","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"B25-20230829","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1136\/jmg.39.12.882","article-title":"Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.","volume":"39","author":"Hart","year":"2002","journal-title":"J Med Genet"},{"key":"B26-20230829","doi-asserted-by":"crossref","first-page":"2141","DOI":"10.1681\/ASN.2004090776","article-title":"De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.","volume":"16","author":"Jenkins","year":"2005","journal-title":"J Am Soc Nephrol"},{"key":"B27-20230829","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1056\/NEJMoa040533","article-title":"A WNT4 mutation associated with M\u00fcllerian-duct regression and virilization in a 46,XX woman.","volume":"351","author":"Biason-Lauber","year":"2004","journal-title":"N Engl J Med"},{"key":"B28-20230829","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.ajhg.2007.08.005","article-title":"SERKAL syndrome: An autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.","volume":"82","author":"Mandel","year":"2008","journal-title":"Am J Hum Genet"},{"key":"B29-20230829","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1681\/ASN.2012010097","article-title":"Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.","volume":"24","author":"Vivante","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"B30-20230829","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1038\/ng1623","article-title":"Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.","volume":"37","author":"Gribouval","year":"2005","journal-title":"Nat Genet"},{"key":"B31-20230829","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1016\/j.devcel.2012.04.018","article-title":"FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.","volume":"22","author":"Barak","year":"2012","journal-title":"Dev Cell"},{"key":"B32-20230829","doi-asserted-by":"crossref","first-page":"61","DOI":"10.12974\/2311-8687.2016.04.02.1","article-title":"ETV4 Mutation in a Patient with Congenital Anomalies of the Kidney and Urinary Tract.","volume":"4","author":"Chen","year":"2016","journal-title":"Int J Pediatr Child Health"},{"key":"B33-20230829","doi-asserted-by":"crossref","first-page":"1917","DOI":"10.1681\/ASN.2013101103","article-title":"Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.","volume":"25","author":"Kohl","year":"2014","journal-title":"J Am Soc Nephrol"},{"key":"B34-20230829","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1159\/000381465","article-title":"HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.","volume":"130","author":"Bulum","year":"2015","journal-title":"Nephron"},{"key":"B35-20230829","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.ajhg.2013.12.017","article-title":"Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.","volume":"94","author":"Humbert","year":"2014","journal-title":"Am J Hum Genet"},{"key":"B36-20230829","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1038\/ki.2013.417","article-title":"Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.","volume":"85","author":"Saisawat","year":"2014","journal-title":"Kidney Int"},{"key":"B37-20230829","doi-asserted-by":"crossref","first-page":"8190","DOI":"10.1073\/pnas.89.17.8190","article-title":"X chromosome-linked Kallmann syndrome: Stop mutations validate the candidate gene.","volume":"89","author":"Hardelin","year":"1992","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B38-20230829","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1038\/nrneph.2015.205","article-title":"Exploring the genetic basis of early-onset chronic kidney disease.","volume":"12","author":"Vivante","year":"2016","journal-title":"Nat Rev Nephrol"},{"key":"B39-20230829","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1038\/ng0198-81","article-title":"Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.","volume":"18","author":"Kohlhase","year":"1998","journal-title":"Nat Genet"},{"key":"B40-20230829","doi-asserted-by":"crossref","first-page":"8090","DOI":"10.1073\/pnas.0308475101","article-title":"SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.","volume":"101","author":"Ruf","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B41-20230829","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1086\/513322","article-title":"Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.","volume":"80","author":"Hoskins","year":"2007","journal-title":"Am J Hum Genet"},{"key":"B42-20230829","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1038\/ki.2013.508","article-title":"Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.","volume":"85","author":"Hwang","year":"2014","journal-title":"Kidney Int"},{"key":"B43-20230829","doi-asserted-by":"crossref","first-page":"2364","DOI":"10.1681\/ASN.2016060694","article-title":"A dominant mutation in nuclear receptor interacting protein 1 causes urinary tract malformations via dysregulation of retinoic acid signaling.","volume":"28","author":"Vivante","year":"2017","journal-title":"J Am Soc Nephrol"},{"key":"B44-20230829","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1016\/j.ajhg.2017.09.018","article-title":"Exome-wide association study identifies GREB1L mutations in congenital kidney malformations.","volume":"101","author":"Sanna-Cherchi","year":"2017","journal-title":"Am J Hum Genet"},{"key":"B45-20230829","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1038\/gim.2016.131","article-title":"Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.","volume":"19","author":"Bekheirnia","year":"2017","journal-title":"Genet Med"},{"key":"B46-20230829","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1681\/ASN.2015080962","article-title":"Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract.","volume":"28","author":"Vivante","year":"2017","journal-title":"J Am Soc Nephrol"},{"key":"B47-20230829","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1534\/genetics.117.1125","article-title":"A gene implicated in activation of retinoic acid receptor targets is a novel renal agenesis gene in humans.","volume":"207","author":"Brophy","year":"2017","journal-title":"Genetics"},{"key":"B48-20230829","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/j.ajhg.2017.09.026","article-title":"Mutations in GREB1L cause bilateral kidney agenesis in humans and mice.","volume":"5","author":"De Tomasi","year":"2017","journal-title":"Am J Hum Genet"},{"key":"B49-20230829","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s00439-015-1610-1","article-title":"Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys.","volume":"135","author":"Kosfeld","year":"2016","journal-title":"Hum Genet"},{"key":"B50-20230829","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1038\/ki.2011.315","article-title":"Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.","volume":"81","author":"Saisawat","year":"2012","journal-title":"Kidney Int"},{"key":"B51-20230829","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/ng.3512","article-title":"Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.","volume":"48","author":"Braun","year":"2016","journal-title":"Nat Genet"},{"key":"B52-20230829","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/ki.2013.450","article-title":"Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.","volume":"85","author":"Gee","year":"2014","journal-title":"Kidney Int"},{"key":"B53-20230829","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1681\/ASN.2014050489","article-title":"A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.","volume":"26","author":"Sadowski","year":"2015","journal-title":"J Am Soc Nephrol"},{"key":"B54-20230829","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/gim.2014.151","article-title":"ACMG policy statement: Updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.","volume":"17","year":"2015","journal-title":"Genet Med"},{"key":"B55-20230829","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools.","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"B56-20230829","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From FastQ data to high confidence variant calls: The Genome Analysis Toolkit best practices pipeline.","volume":"43","author":"Van der Auwera","year":"2013","journal-title":"Curr Protoc Bioinformatics"},{"key":"B57-20230829","doi-asserted-by":"crossref","first-page":"W593","DOI":"10.1093\/nar\/gkp369","article-title":"HomozygosityMapper\u2013an interactive approach to homozygosity mapping.","volume":"37","author":"Seelow","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"B58-20230829","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans.","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"B59-20230829","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: A matching tool for connecting investigators with an interest in the same gene.","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum Mutat"},{"key":"B60-20230829","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/gim.2013.73","article-title":"ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.","volume":"15","author":"Green","year":"2013","journal-title":"Genet Med"},{"key":"B61-20230829","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1038\/gim.2017.18","article-title":"CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.","volume":"19","author":"Green","year":"2017","journal-title":"Genet Med"},{"key":"B62-20230829","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1038\/gim.2016.190","article-title":"Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics.","volume":"19","author":"Kalia","year":"2017","journal-title":"Genet Med"},{"key":"B63-20230829","doi-asserted-by":"crossref","first-page":"e1000353","DOI":"10.1371\/journal.pgen.1000353","article-title":"A systematic approach to mapping recessive disease genes in individuals from outbred populations.","volume":"5","author":"Hildebrandt","year":"2009","journal-title":"PLoS Genet"},{"key":"B64-20230829","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/j.ajhg.2012.10.007","article-title":"Copy-number disorders are a common cause of congenital kidney malformations.","volume":"91","author":"Sanna-Cherchi","year":"2012","journal-title":"Am J Hum Genet"},{"key":"B65-20230829","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1038\/ng.3933","article-title":"Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.","volume":"49","author":"Braun","year":"2017","journal-title":"Nat Genet"},{"key":"B66-20230829","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"B67-20230829","first-page":"1400","article-title":"The R\u00e9union paradox and the digenic model.","volume":"59","author":"Beckmann","year":"1996","journal-title":"Am J Hum Genet"},{"key":"B68-20230829","doi-asserted-by":"crossref","first-page":"619","DOI":"10.3109\/0886022X.2014.882237","article-title":"Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation.","volume":"36","author":"Tasic","year":"2014","journal-title":"Renal Failure"},{"key":"B69-20230829","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1159\/000477750","volume":"8","author":"van der Ven","year":"2017","journal-title":"Mol Syndromology"}],"container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00001751-201809000-00012","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:31:58Z","timestamp":1786131118000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00001751-201809000-00012"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,24]]},"references-count":67,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2018]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.2017121265","relation":{},"ISSN":["1046-6673","1533-3450"],"issn-type":[{"value":"1046-6673","type":"print"},{"value":"1533-3450","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,8,24]]}}}