{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:46:39Z","timestamp":1790819199053,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,3,24]],"date-time":"2014-03-24T00:00:00Z","timestamp":1395619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\"><jats:italic>HNF1B<\/jats:italic><\/jats:styled-content> gene mutations might be an underdiagnosed cause of nephropathy in adult patients mainly because of their pleomorphic clinical presentations. As most studies are based on paediatric populations, it is difficult to assess the likelihood of finding <jats:styled-content style=\"fixed-case\"><jats:italic>HNF1B<\/jats:italic><\/jats:styled-content> mutations in adult patients and consequently define clinical settings in which genetic analysis is indicated. The aim of this study was the search for mutations in the <jats:styled-content style=\"fixed-case\"><jats:italic>HNF1B<\/jats:italic><\/jats:styled-content> gene in a cohort of unrelated adult patients with nephropathy of unknown aetiology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patients were tested for the <jats:styled-content style=\"fixed-case\"><jats:italic>HNF1B<\/jats:italic><\/jats:styled-content> gene if they had chronic kidney disease of unknown origin and renal structure abnormalities (<jats:styled-content style=\"fixed-case\">RSA<\/jats:styled-content>) or a positive family history of nephropathy. The <jats:styled-content style=\"fixed-case\"><jats:italic>HNF1B<\/jats:italic><\/jats:styled-content> coding sequence and intron\u2013exon boundaries were analysed by direct sequencing. The search for gene deletions was performed by Multiple Ligation Probe Analysis (<jats:styled-content style=\"fixed-case\">MLPA<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Heterozygous mutations were identified in 6 out of 67 screened patients (9.0%) and included two whole gene deletions, one nonsense (<jats:styled-content style=\"fixed-case\">p.Gln<\/jats:styled-content>136<jats:styled-content style=\"fixed-case\">Stop<\/jats:styled-content>), two missense (<jats:styled-content style=\"fixed-case\">p.Gly<\/jats:styled-content>76<jats:styled-content style=\"fixed-case\">Cys<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">p.Ala<\/jats:styled-content>314<jats:styled-content style=\"fixed-case\">Thr<\/jats:styled-content>) mutations and a frameshift microdeletion (c.384_390 <jats:styled-content style=\"fixed-case\">delCATGCAG<\/jats:styled-content>), the latter two (c.384_390 del and <jats:styled-content style=\"fixed-case\">p.Ala<\/jats:styled-content>314<jats:styled-content style=\"fixed-case\">Thr<\/jats:styled-content>) not ever being reported to date. Mean age of the mutated patients at screening was 48.5 years with a <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">F<\/jats:styled-content> ratio of 2\/4. The clinical manifestations of affected patients were extremely pleomorphic, including several urological and extra\u2010renal manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Mutations of <jats:styled-content style=\"fixed-case\"><jats:italic>HNF1B<\/jats:italic><\/jats:styled-content> could explain chronic kidney disease in up to 9% of adult patients with a nephropathy of unknown aetiology and <jats:styled-content style=\"fixed-case\">RSA<\/jats:styled-content>: therefore an <jats:styled-content style=\"fixed-case\"><jats:italic>HNF1B<\/jats:italic><\/jats:styled-content> mutation analysis should be considered in this group of patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nep.12199","type":"journal-article","created":{"date-parts":[[2014,1,6]],"date-time":"2014-01-06T08:34:42Z","timestamp":1388997282000},"page":"202-209","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Chronic renal failure of unknown origin is caused by <i><scp>HNF1B<\/scp><\/i> mutations in 9% of adult patients: A single centre cohort analysis"],"prefix":"10.1111","volume":"19","author":[{"given":"Claudio","family":"Musetti","sequence":"first","affiliation":[{"name":"Department of Translational Medicine, Nephrology and Transplantation Hospital \u2018Maggiore della Carit\u00e0\u2019  Novara NO Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Quaglia","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Nephrology and Transplantation Hospital \u2018Maggiore della Carit\u00e0\u2019  Novara NO Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Mellone","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics Department of Health Sciences and IRCAD University of Eastern Piedmont \u2018Amedeo Avogadro\u2019  Novara NO Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Pagani","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Department of Health Sciences University of \u2018Piemonte Orientale Amedeo Avogadro\u2019  Novara NO Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ileana","family":"Fusco","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics Department of Health Sciences and IRCAD University of Eastern Piedmont \u2018Amedeo Avogadro\u2019  Novara NO Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Monzani","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Department of Health Sciences University of \u2018Piemonte Orientale Amedeo Avogadro\u2019  Novara NO Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mara","family":"Giordano","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics Department of Health Sciences and IRCAD University of Eastern Piedmont \u2018Amedeo Avogadro\u2019  Novara NO Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piero","family":"Stratta","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Nephrology and Transplantation Hospital \u2018Maggiore della Carit\u00e0\u2019  Novara NO Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,3,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1523-1755.2005.00625.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M414121200"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra002168"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.54.11.3126"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-140-7-200404060-00009"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfh348"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2008.227"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-2189"},{"key":"e_1_2_5_10_1","first-page":"3326","article-title":"Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome\/maturity onset diabetes of the young type 5","volume":"123","author":"Chen Y","year":"2010","journal-title":"Chin. 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