{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:38:22Z","timestamp":1790473102512,"version":"4.1.0"},"reference-count":48,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JASN"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:p>\n                    Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six of 1000 live births, represent about 20% of the prenatally detected anomalies, and constitute the main cause of CKD in children. These disorders are phenotypically and genetically heterogeneous. Monogenic causes of CAKUT in humans and mice have been identified. However, despite high-throughput sequencing studies, the cause of the disease remains unknown in most patients, and several studies support more complex inheritance and the role of environmental factors and\/or epigenetics in the pathophysiology of CAKUT. Here, we report the targeted exome sequencing of 330 genes, including genes known to be involved in CAKUT and candidate genes, in a cohort of 204 unrelated patients with CAKUT; 45% of the patients were severe fetal cases. We identified pathogenic mutations in 36 of 204 (17.6%) patients. These mutations included five\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    heterozygous loss of function mutations\/deletions in the PBX homeobox 1 gene (\n                    <jats:italic toggle=\"yes\">PBX1<\/jats:italic>\n                    ), a gene known to have a crucial role in kidney development. In contrast, the frequency of\n                    <jats:italic toggle=\"yes\">SOX17<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">DSTYK<\/jats:italic>\n                    variants recently reported as pathogenic in CAKUT did not indicate causality. These findings suggest that\n                    <jats:italic toggle=\"yes\">PBX1<\/jats:italic>\n                    is involved in monogenic CAKUT in humans and call into question the role of some gene variants recently reported as pathogenic in CAKUT. Targeted exome sequencing also proved to be an efficient and cost-effective strategy to identify pathogenic mutations and deletions in known CAKUT genes.\n                  <\/jats:p>","DOI":"10.1681\/asn.2017010043","type":"journal-article","created":{"date-parts":[[2017,5,31]],"date-time":"2017-05-31T20:10:24Z","timestamp":1496261424000},"page":"2901-2914","source":"Crossref","is-referenced-by-count":112,"title":["Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract"],"prefix":"10.1681","volume":"28","author":[{"given":"Laurence","family":"Heidet","sequence":"first","affiliation":[{"name":"Assistance Publique - H\u00f4pitaux de Paris, Centre de r\u00e9f\u00e9rence des Maladies R\u00e9nales H\u00e9r\u00e9ditaires de l\u2019Enfant et de l\u2019Adulte, Paris, France;"},{"name":"Assistance Publique - H\u00f4pitaux de Paris, Service de N\u00e9phrologie P\u00e9diatrique,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Morini\u00e8re","sequence":"additional","affiliation":[{"name":"Assistance Publique - H\u00f4pitaux de Paris, Centre de r\u00e9f\u00e9rence des Maladies R\u00e9nales H\u00e9r\u00e9ditaires de l\u2019Enfant et de l\u2019Adulte, Paris, France;"},{"name":"Assistance Publique - H\u00f4pitaux de Paris, D\u00e9partement de G\u00e9n\u00e9tique, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charline","family":"Henry","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale Unit\u00e9 Mixte de Recherche 1163, Laboratory of Hereditary Kidney Diseases,"},{"name":"Paris Descartes Sorbonne Paris Cit\u00e9 University, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara","family":"De Tomasi","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale Unit\u00e9 Mixte de Recherche 1163, Laboratory of Hereditary Kidney Diseases,"},{"name":"Paris Descartes Sorbonne Paris Cit\u00e9 University, Paris, France;"},{"name":"Paris Diderot University, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeline Louise","family":"Reilly","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale Unit\u00e9 Mixte de Recherche 1163, Laboratory of Hereditary Kidney Diseases,"},{"name":"Paris Descartes Sorbonne Paris Cit\u00e9 University, Paris, France;"},{"name":"Paris Diderot University, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Humbert","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale Unit\u00e9 Mixte de Recherche 1163, Laboratory of Hereditary Kidney Diseases,"},{"name":"Paris Descartes Sorbonne Paris Cit\u00e9 University, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Alibeu","sequence":"additional","affiliation":[{"name":"Genomic Platform, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale Unit\u00e9 Mixte de Recherche 1163, Paris Descartes Sorbonne Paris Cit\u00e9 University, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Fourrage","sequence":"additional","affiliation":[{"name":"Assistance Publique - H\u00f4pitaux de Paris, D\u00e9partement de G\u00e9n\u00e9tique, and"},{"name":"Bioinformatic Plateform, Paris Descartes Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bole-Feysot","sequence":"additional","affiliation":[{"name":"Genomic Platform, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale Unit\u00e9 Mixte de Recherche 1163, Paris Descartes Sorbonne Paris Cit\u00e9 University, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nitschk\u00e9","sequence":"additional","affiliation":[{"name":"Bioinformatic Plateform, Paris Descartes Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Tores","sequence":"additional","affiliation":[{"name":"Bioinformatic Plateform, Paris Descartes Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Bras","sequence":"additional","affiliation":[{"name":"Bioinformatic Plateform, Paris Descartes Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Jeanpierre","sequence":"additional","affiliation":[{"name":"Paris Descartes Sorbonne Paris Cit\u00e9 University, Paris, France;"},{"name":"Assistance Publique - H\u00f4pitaux de Paris, D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Cochin, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Pietrement","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de n\u00e9phrologie p\u00e9diatrique and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Gaillard","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique clinique, Centre Hospitalo-Universitaire de Reims, Reims, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Gonzales","sequence":"additional","affiliation":[{"name":"Assistance Publique - H\u00f4pitaux de Paris, D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Armand Trousseau and Universit\u00e9 Pierre et Marie Curie, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Novo","sequence":"additional","affiliation":[{"name":"Centre Hospitalo-Universitaire de Lille, H\u00f4pital Jeanne de Flandre, Service de N\u00e9phrologie P\u00e9diatrique, Lille, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace, H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00eblle","family":"Roume","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique M\u00e9dicale, Centre Hospitalier Intercommunal Poissy, St. Germain en Laye, Poissy, France; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jelena","family":"Martinovic","sequence":"additional","affiliation":[{"name":"Assistance Publique - H\u00f4pitaux de Paris, Unit of Fetal Pathology, Antoine B\u00e9cl\u00e8re Hospital, Clamart, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Malan","sequence":"additional","affiliation":[{"name":"Assistance Publique - H\u00f4pitaux de Paris, Service de Cytog\u00e9n\u00e9tique, H\u00f4pital Universitaire Necker-Enfants malades, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9mi","family":"Salomon","sequence":"additional","affiliation":[{"name":"Assistance Publique - H\u00f4pitaux de Paris, Centre de r\u00e9f\u00e9rence des Maladies R\u00e9nales H\u00e9r\u00e9ditaires de l\u2019Enfant et de l\u2019Adulte, Paris, France;"},{"name":"Assistance Publique - H\u00f4pitaux de Paris, Service de N\u00e9phrologie P\u00e9diatrique,"},{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale Unit\u00e9 Mixte de Recherche 1163, Laboratory of Hereditary Kidney Diseases,"},{"name":"Paris Descartes Sorbonne Paris Cit\u00e9 University, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Saunier","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale Unit\u00e9 Mixte de Recherche 1163, Laboratory of Hereditary Kidney Diseases,"},{"name":"Paris Descartes Sorbonne Paris Cit\u00e9 University, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Antignac","sequence":"additional","affiliation":[{"name":"Assistance Publique - H\u00f4pitaux de Paris, D\u00e9partement de G\u00e9n\u00e9tique, and"},{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale Unit\u00e9 Mixte de Recherche 1163, Laboratory of Hereditary Kidney Diseases,"},{"name":"Paris Descartes Sorbonne Paris Cit\u00e9 University, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Jeanpierre","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale Unit\u00e9 Mixte de Recherche 1163, Laboratory of Hereditary Kidney Diseases,"},{"name":"Paris Descartes Sorbonne Paris Cit\u00e9 University, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2017,5,31]]},"reference":[{"issue":"Suppl 1","key":"B1-20230819","doi-asserted-by":"crossref","first-page":"S31","DOI":"10.1002\/bdra.20778","article-title":"Paper 4: EUROCAT statistical monitoring: Identification and investigation of ten year trends of congenital anomalies in Europe.","volume":"91","author":"Loane","year":"2011","journal-title":"Birth Defects Res A Clin Mol 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