{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:40:57Z","timestamp":1791286857802,"version":"4.1.0"},"reference-count":38,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2006,1]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> Hepatocyte nuclear factor-1 beta (HNF-1\u03b2) is a widely distributed transcription factor which plays a critical role in embryonic development of the kidney, pancreas, liver, and Mullerian duct. Thirty <jats:italic>HNF-1\u03b2<\/jats:italic> mutations have been reported in patients with renal cysts and other renal developmental disorders, young-onset diabetes, pancreatic atrophy, abnormal liver function tests, and genital tract abnormalities.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> We sequenced the <jats:italic>HNF-1\u03b2<\/jats:italic> gene in 160 unrelated subjects with renal disease, 40% of whom had a personal\/family history of diabetes.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> Twenty three different heterozygous <jats:italic>HNF-1\u03b2<\/jats:italic> mutations were identified in 23\/160 subjects (14%), including 10 novel mutations (V61G, V110G, S148L, K156E, Q176X, R276Q, S281fsinsC, R295P, H324fsdelCA, Q470X). Seven (30%) cases were proven to be due to de novo mutations. Renal cysts were found in 19\/23 (83%) patients (four with glomerulocystic kidney disease, GCKD) and diabetes in 11\/23 (48%, while three other families had a family history of diabetes. Only 26% of families met diagnostic criteria for maturity-onset diabetes of the young (MODY) but 39% had renal cysts and diabetes (RCAD). We found no clear genotype\/phenotype relationships.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusion:<\/jats:bold> We report the largest series to date of <jats:italic>HNF-1\u03b2<\/jats:italic> mutations and confirm <jats:italic>HNF-1\u03b2<\/jats:italic> mutations as an important cause of renal disease. Despite the original description of <jats:italic>HNF-1\u03b2<\/jats:italic> as a MODY gene, a personal\/family history of diabetes is often absent and the most common clinical manifestation is renal cysts. Molecular genetic testing for <jats:italic>HNF-1\u03b2<\/jats:italic> mutations should be considered in patients with unexplained renal cysts (including GCKD), especially when associated with diabetes, early-onset gout, or uterine abnormalities.<\/jats:p>","DOI":"10.1136\/jmg.2005.032854","type":"journal-article","created":{"date-parts":[[2005,6,1]],"date-time":"2005-06-01T20:25:17Z","timestamp":1117657517000},"page":"84-90","source":"Crossref","is-referenced-by-count":297,"title":["Mutations in hepatocyte nuclear factor-1\u03b2 and their related phenotypes"],"prefix":"10.1136","volume":"43","author":[{"given":"E L","family":"Edghill","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Bingham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A 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