{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:54Z","timestamp":1784557074546,"version":"3.55.0"},"reference-count":18,"publisher":"Bioscientifica","issue":"3","license":[{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,7,1]]},"abstract":"\n Summary<\/jats:title>\n \n Maturity-onset diabetes of the young (MODY) is a group of monogenic forms of diabetes mellitus characterized by early-onset diabetes with dominant inheritance of beta-cell dysfunction. There are few reports of the coinheritance of glucokinase (\n GCK<\/jats:italic>\n ) and hepatocyte nuclear factor 1 alpha gene (\n HNF1A<\/jats:italic>\n ) variants underlying MODY in patients. Herein, we describe a case involving combinations of monoallelic\n GCK<\/jats:italic>\n and\n HNF1A<\/jats:italic>\n variants associated with MODY. A 10-year-old Japanese girl with a three-generation family history of diabetes without obesity showed high levels of urinary glucose during a school screening test. Her glucose metabolism profile revealed 124 mg\/dL of fasting glucose, 6.9% glycated hemoglobin (HbA1c), and 2.78 ng\/mL of C-peptide immunoreactivity levels. In a 75-g oral glucose tolerance test, her base glucose, peak glucose, insulin resistance, and homeostasis model assessment of beta cell function levels were 124 mg\/dL, 210 mg\/dL (120 min), 1.71, and 33%, respectively. Based on the clinical phenotype of GCK-MODY, alimentary and exercise therapy without oral hypoglycemic agents were used to maintain her fasting glucose and HbA1c levels. We explored the coinheritance of MODY with\n GCK<\/jats:italic>\n and\n HNF1A<\/jats:italic>\n variants in this and past cases and found that careful clinical follow-up is required to firmly establish phenotypic features. Moreover, the accumulation of data on genetically confirmed MODY associated with the coinheritance of\n GCK<\/jats:italic>\n and\n HNF1A<\/jats:italic>\n variants will be useful for understanding genotype\u2013phenotype correlations.\n <\/jats:p>\n <\/jats:sec>\n \n Learning points<\/jats:title>\n \n \n MODY is a group of monogenic forms of diabetes mellitus characterized by early-onset diabetes with the dominant inheritance of beta-cell dysfunction.<\/jats:p>\n <\/jats:list-item>\n \n \n MODY2 and MODY3 caused by heterozygous loss-of-function variants in the glucokinase (\n GCK<\/jats:italic>\n ) and hepatocyte nuclear factor 1 alpha (\n HNF1A<\/jats:italic>\n ) genes, respectively, are the most common forms of the disease.\n <\/jats:p>\n <\/jats:list-item>\n \n \n Few cases of MODY have previously been reported as being associated with the coinheritance of\n GCK<\/jats:italic>\n and\n HNF1A<\/jats:italic>\n variants.\n <\/jats:p>\n <\/jats:list-item>\n \n \n Careful clinical follow-up is required to firmly establish phenotypic features in the coinheritance of MODY with\n GCK<\/jats:italic>\n and\n HNF1A<\/jats:italic>\n variants.\n <\/jats:p>\n <\/jats:list-item>\n \n \n The accumulation of data on genetically confirmed MODY associated with the coinheritance of\n GCK<\/jats:italic>\n and\n HNF1A<\/jats:italic>\n variants will be useful for understanding genotype\u2013phenotype correlations.\n <\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-23-0100","type":"journal-article","created":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T07:26:45Z","timestamp":1722497205000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young"],"prefix":"10.1530","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0082-9666","authenticated-orcid":true,"given":"Daisuke","family":"Watanabe","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4981-1715","authenticated-orcid":true,"given":"Hideaki","family":"Yagasaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiromune","family":"Narusawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Inukai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Clinical Endocrinology","first-page":"342","article-title":"Co-inheritance of HNF1a and GCK mutations in a family with maturity-onset diabetes of the young (MODY): implications for genetic testing","volume":"79","author":"L\u00f3pez-Garrido","year":"2013","unstructured":"L\u00f3pez-Garrido MPHerranz-Antol\u00edn SAlija-Merillas MJGiralt P & Escribano J. 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(https:\/\/doi.org\/10.1038\/s41576-022-00514-4)"}],"container-title":["Endocrinology, Diabetes & Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2024\/3\/EDM23-0100.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2024\/3\/EDM23-0100.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2024\/3\/EDM23-0100.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:48:18Z","timestamp":1784555298000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3756"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,1]]},"references-count":18,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.1530\/edm-23-0100","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,1]]}}}