{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T07:11:12Z","timestamp":1789888272884,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,12,13]],"date-time":"2012-12-13T00:00:00Z","timestamp":1355356800000},"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":["Diabet. Med."],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Diabet. Med. 30, 114\u2013117 (2013)<\/jats:p><\/jats:sec><jats:sec><jats:title>Abstract<\/jats:title><jats:p><jats:bold>Aims\u2002<\/jats:bold> Hepatocyte nuclear factor\u20031\u03b2 (<jats:italic>HNF1B<\/jats:italic>) mutations cause a syndrome of renal cysts and diabetes, with whole gene deletions accounting for approximately 50% of cases. The severity of the renal phenotype is variable, from enlarged cystic kidneys incompatible with life to normal renal development and function. We investigated the prevalence of <jats:italic>HNF1B<\/jats:italic> deletions in patients with diabetes but no known renal disease.<\/jats:p><jats:p><jats:bold>Methods\u2002<\/jats:bold> We tested 461 patients with familial diabetes diagnosed before 45\u2003years, including 258 probands who met clinical criteria for maturity\u2010onset diabetes of the young (two generations affected and at least one family member diagnosed under 25\u2003years). A fluorescent polymerase chain reaction assay was used to analyse two intragenic polymorphic <jats:italic>HNF1B<\/jats:italic> markers and identify heterozygous patients who therefore did not have whole gene deletions. Those patients homozygous for both markers were then tested for an <jats:italic>HNF1B<\/jats:italic> deletion using multiplex ligation\u2010dependent probe amplification.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> Heterozygous <jats:italic>HNF1B<\/jats:italic> intragenic polymorphisms were identified in 337\/461 subjects. Multiplex ligation\u2010dependent probe amplification analysis showed an <jats:italic>HNF1B<\/jats:italic> gene deletion in three of the remaining 124 probands, all of whom met the criteria for maturity\u2010onset diabetes of the young. Testing of their relatives identified three additional deletion carriers and ultrasound scanning showed renal developmental abnormalities in three of these six patients.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> We estimate that <jats:italic>HNF1B<\/jats:italic> mutations account for &lt;\u20031% of cases of maturity\u2010onset diabetes of the young. Although <jats:italic>HNF1B<\/jats:italic> mutations are a rare cause of diabetes in the absence of known renal disease, a genetic diagnosis of renal cysts and diabetes syndrome is important as it raises the possibility of subclinical renal disease and the 50% risk of renal cysts and diabetes syndrome in the patient\u2019s offspring.<\/jats:p><\/jats:sec>","DOI":"10.1111\/j.1464-5491.2012.03709.x","type":"journal-article","created":{"date-parts":[[2012,5,15]],"date-time":"2012-05-15T12:37:19Z","timestamp":1337085439000},"page":"114-117","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["<i>HNF1B<\/i> deletions in patients with young\u2010onset diabetes but no known renal disease"],"prefix":"10.1111","volume":"30","author":[{"given":"E. L.","family":"Edghill","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Stals","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. A.","family":"Oram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. H.","family":"Shepherd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. T.","family":"Hattersley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,12,13]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-384"},{"key":"e_1_2_8_3_2","first-page":"3326","article-title":"Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome\/maturity onset diabetes of the young type\u20035","volume":"123","author":"Chen YZ","year":"2010","journal-title":"Chinese Med J"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.54.11.3126"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/522591"},{"key":"e_1_2_8_6_2","first-page":"41","article-title":"Hepatocyte nuclear factor\u20101\u03b2 gene deletions are common in subjects with unexplained renal disease and diabetes","volume":"23","author":"Edghill E","year":"2006","journal-title":"Diabet Med"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfm603"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2006.01999.x"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfh348"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-140-7-200404060-00009"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2008.02460.x"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2008060633"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2000.057003898.x"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.06810909"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006030277"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-08-0203"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg355"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.2337\/diacare.27.5.1102"}],"container-title":["Diabetic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1464-5491.2012.03709.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1464-5491.2012.03709.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T11:27:36Z","timestamp":1697628456000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1464-5491.2012.03709.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12,13]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["10.1111\/j.1464-5491.2012.03709.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1464-5491.2012.03709.x","archive":["Portico"],"relation":{},"ISSN":["0742-3071","1464-5491"],"issn-type":[{"value":"0742-3071","type":"print"},{"value":"1464-5491","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12,13]]},"assertion":[{"value":"2012-12-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}