{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T16:55:44Z","timestamp":1790873744985,"version":"4.1.0"},"reference-count":23,"publisher":"The Endocrine Society","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the gene coding for hepatocyte nuclear factor-1\u03b2 (HNF-1\u03b2) have been known to cause a form of maturity-onset diabetes of the young (MODY5), which is usually characterized by dominantly inherited adolescence-onset diabetes mellitus associated with renal cysts. This report, however, describes recurrence of a novel missense mutation in the HNF-1\u03b2 gene, S148W (C443G), in two sibs, one with neonatal diabetes mellitus and the other with neonatal polycystic, dysplastic kidneys leading to early renal failure. The former patient had only a few small renal cysts with normal renal functions, and the latter had only a transient episode of hyperglycemia, which resolved spontaneously. Interestingly, both parents were clinically unaffected, and PCR restriction fragment length polymorphism analysis showed that the mother was a low-level mosaic of normal and mutant HNF-1\u03b2, which suggested that the recurrence was caused by germline mosaicism. This is the first report of permanent neonatal diabetes mellitus caused by a mutation of the HNF-1\u03b2 gene as well as the first report of germline mosaicism of this gene. In addition, the two cases described here show that additional factors, genetic or environmental, can have a significant influence on the phenotypic expression of HNF-1\u03b2 mutations.<\/jats:p>","DOI":"10.1210\/jc.2003-031828","type":"journal-article","created":{"date-parts":[[2004,6,4]],"date-time":"2004-06-04T21:48:10Z","timestamp":1086385690000},"page":"2905-2908","source":"Crossref","is-referenced-by-count":102,"title":["Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1\u03b2 Gene Due to Germline Mosaicism"],"prefix":"10.1210","volume":"89","author":[{"given":"Tohru","family":"Yorifuji","sequence":"first","affiliation":[{"name":"Department of Pediatrics (T.Y., K.K., M.M., T.I., M.K., T.N.), Kyoto University Hospital, Kyoto 606-8507"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiji","family":"Kurokawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (T.Y., K.K., M.M., T.I., M.K., T.N.), Kyoto University Hospital, Kyoto 606-8507"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsukazu","family":"Mamada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (T.Y., K.K., M.M., T.I., M.K., T.N.), Kyoto University Hospital, Kyoto 606-8507"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuyoshi","family":"Imai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (T.Y., K.K., M.M., T.I., M.K., T.N.), Kyoto University Hospital, Kyoto 606-8507"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiko","family":"Kawai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (T.Y., K.K., M.M., T.I., M.K., T.N.), Kyoto University Hospital, Kyoto 606-8507"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshikazu","family":"Nishi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Y.N.), Hiroshima Red Cross Hospital, Hiroshima 730-8619"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiichiro","family":"Shishido","sequence":"additional","affiliation":[{"name":"Departments of Urology (S.S.), Tokyo 204-8567, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukihiro","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Endocrinology and Metabolism (Y.H.), Tokyo Metropolitan Kiyose Children\u2019s Hospital, Tokyo 204-8567, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsutoshi","family":"Nakahata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (T.Y., K.K., M.M., T.I., M.K., T.N.), Kyoto University Hospital, Kyoto 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