{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T18:41:58Z","timestamp":1792089718240,"version":"4.4.0"},"reference-count":34,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["NV18-01-00078"],"award-info":[{"award-number":["NV18-01-00078"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2021,9]]},"DOI":"10.1016\/j.ejmg.2021.104264","type":"journal-article","created":{"date-parts":[[2021,6,20]],"date-time":"2021-06-20T11:53:23Z","timestamp":1624190003000},"page":"104264","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1\u0391 and HNF1\u0392 genes"],"prefix":"10.1016","volume":"64","author":[{"given":"Konstantina","family":"Patouni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ondrej","family":"Cinek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stepanka","family":"Pruhova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Elblova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Xatzipsalti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amalia","family":"Sertedaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andriani","family":"Vazeou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2021.104264_bib1","doi-asserted-by":"crossref","first-page":"1172","DOI":"10.1111\/j.1464-5491.2009.02855.x","article-title":"Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the young","volume":"26","author":"Beijers","year":"2009","journal-title":"Diabet. Med."},{"issue":"11","key":"10.1016\/j.ejmg.2021.104264_bib2","doi-asserted-by":"crossref","first-page":"3126","DOI":"10.2337\/diabetes.54.11.3126","article-title":"Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5","volume":"54","author":"Bellann\u00e9-Chantelot","year":"2005","journal-title":"Diabetes"},{"issue":"3","key":"10.1016\/j.ejmg.2021.104264_bib3","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/j.ymgme.2014.12.304","article-title":"Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism","volume":"114","author":"Bennett","year":"2015","journal-title":"Mol. Genet. Metabol."},{"issue":"5","key":"10.1016\/j.ejmg.2021.104264_bib4","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1007\/s00467-015-3142-2","article-title":"HNF1B-associated clinical phenotypes: the kidney and beyond","volume":"31","author":"Bockenhauer","year":"2016","journal-title":"Pediatr. Nephrol."},{"issue":"2","key":"10.1016\/j.ejmg.2021.104264_bib5","doi-asserted-by":"crossref","first-page":"405","DOI":"10.2337\/diabetes.55.02.06.db05-1019","article-title":"Contrasting insulin sensitivity of endogenous glucose production rate in subjects with hepatocyte nuclear factor-1beta and -1alpha mutations","volume":"55","author":"Brackenridge","year":"2006","journal-title":"Diabetes"},{"issue":"2","key":"10.1016\/j.ejmg.2021.104264_bib6","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/nrneph.2014.232","article-title":"HNF1B-associated renal and extra-renal disease\u2014an expanding clinical spectrum","volume":"11","author":"Clissold","year":"2015","journal-title":"Nat. Rev. Nephrol."},{"issue":"2","key":"10.1016\/j.ejmg.2021.104264_bib7","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/nrneph.2014.232","article-title":"HNF1B-associated renal and extra-renal disease\u2014an expanding clinical spectrum","volume":"11","author":"Clissold","year":"2015","journal-title":"Nat. Rev. Nephrol."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104264_bib8","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1136\/jmg.2005.032854","article-title":"Mutations in hepatocyte nuclear factor-1beta and their related phenotypes","volume":"43","author":"Edghill","year":"2006","journal-title":"J \u039ced Genet"},{"issue":"8","key":"10.1016\/j.ejmg.2021.104264_bib9","doi-asserted-by":"crossref","first-page":"1878","DOI":"10.2337\/dc11-0035","article-title":"MODY: history, genetics, pathophysiology and clinical decision making","volume":"34","author":"Fajans","year":"2011","journal-title":"Diabetes Care"},{"issue":"8","key":"10.1016\/j.ejmg.2021.104264_bib10","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1007\/s00467-018-3990-7","article-title":"New insights into the role of HNF-1\u03b2 in kidney (patho)physiology","volume":"34","author":"Ferre","year":"2019","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ejmg.2021.104264_bib11","doi-asserted-by":"crossref","first-page":"2336","DOI":"10.2337\/dc10-0561","article-title":"Double heterozygous mutations involving both HNF1A\/MODY3 and HNF4A\/MODY1 genes: a case report","volume":"33","author":"Forlani","year":"2010","journal-title":"Diabetes Care"},{"issue":"14","key":"10.1016\/j.ejmg.2021.104264_bib12","doi-asserted-by":"crossref","first-page":"2216","DOI":"10.1093\/hmg\/ddl147","article-title":"Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes","volume":"15","author":"Harries","year":"2006","journal-title":"Hum. Mol. Genet."},{"issue":"Suppl. 27","key":"10.1016\/j.ejmg.2021.104264_bib13","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1111\/pedi.12772","article-title":"ISPAD Clinical Practice Consensus Guidelines 2018: the diagnosis and management of monogenic diabetes in children and adolescents","volume":"19","author":"Hattersley","year":"2018","journal-title":"Pediatr. Diabetes"},{"issue":"6","key":"10.1016\/j.ejmg.2021.104264_bib14","doi-asserted-by":"crossref","first-page":"1613","DOI":"10.2337\/dc06-2618","article-title":"Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations","volume":"30","author":"Karges","year":"2007","journal-title":"Diabetes Care"},{"issue":"12","key":"10.1016\/j.ejmg.2021.104264_bib15","doi-asserted-by":"crossref","first-page":"2292","DOI":"10.2337\/diacare.25.12.2292","article-title":"Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect","volume":"25","author":"Klupa","year":"2002","journal-title":"Diabetes Care"},{"issue":"4","key":"10.1016\/j.ejmg.2021.104264_bib16","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1172\/JCI119199","article-title":"Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect","volume":"99","author":"Lehto","year":"1997","journal-title":"J Clin Inest"},{"issue":"10","key":"10.1016\/j.ejmg.2021.104264_bib17","doi-asserted-by":"crossref","first-page":"3430","DOI":"10.1093\/ndt\/gfq380","article-title":"Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion","volume":"25","author":"Loirat","year":"2010","journal-title":"Nephrol. Dial. Transplant."},{"issue":"79","key":"10.1016\/j.ejmg.2021.104264_bib18","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1111\/cen.12050","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":"3","author":"Lopez-Garrido","year":"2013","journal-title":"Clin. Endocrinol."},{"issue":"11","key":"10.1016\/j.ejmg.2021.104264_bib19","doi-asserted-by":"crossref","first-page":"2774","DOI":"10.2337\/diacare.28.11.2774","article-title":"Renal malformations may be linked to mutations in the hepatocyte nuclear factor-1alpha (MODY3) gene","volume":"28","author":"Malecki","year":"2005","journal-title":"Diabetes Care"},{"issue":"5","key":"10.1016\/j.ejmg.2021.104264_bib20","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1016\/j.ajhg.2010.10.004","article-title":"Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia","volume":"87","author":"Moreno-De-Luca","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2021.104264_bib21","doi-asserted-by":"crossref","first-page":"107842","DOI":"10.1016\/j.diabres.2019.107842","article-title":"Worldwide estimates of incidence, prevalence and mortality of type 1 diabetes in children and adolescents: results from the International Diabetes Federation Diabetes Atlas","volume":"157","author":"Patterson","year":"2019","journal-title":"Diabetes Res. Clin. Pract."},{"key":"10.1016\/j.ejmg.2021.104264_bib22","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1016\/S0140-6736(03)14571-0","article-title":"Andrew T Hattersley Genetic cause of hyperglycaemia and response to treatment in diabetes","volume":"362","author":"Pearson","year":"2003","journal-title":"Lancet"},{"key":"10.1016\/j.ejmg.2021.104264_bib23","doi-asserted-by":"crossref","DOI":"10.1002\/path.5629","article-title":"Insights into the etiology and physiopathology of MODY5\/HNF1B pancreatic phenotype with a mouse model of the human disease","author":"Quilichini","year":"2021","journal-title":"J. Pathol."},{"issue":"7","key":"10.1016\/j.ejmg.2021.104264_bib24","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1111\/pedi.12018","article-title":"Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes","volume":"14","author":"Shankar","year":"2013","journal-title":"Pediatr. Diabetes"},{"issue":"4","key":"10.1016\/j.ejmg.2021.104264_bib25","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1111\/j.1464-5491.2009.02690.x","article-title":"A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients","volume":"26","author":"Shepherd","year":"2009","journal-title":"Diabet. Med."},{"issue":"11","key":"10.1016\/j.ejmg.2021.104264_bib26","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.2337\/dc16-0645","article-title":"Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. Pediatric diabetes population with monogenic diabetes","volume":"39","author":"Shepherd","year":"2016","journal-title":"Diabetes Care"},{"key":"10.1016\/j.ejmg.2021.104264_bib27","doi-asserted-by":"crossref","first-page":"2520","DOI":"10.1007\/s00125-018-4728-6","article-title":"A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin","volume":"61","author":"Shepherd","year":"2018","journal-title":"Diabetologia"},{"issue":"3","key":"10.1016\/j.ejmg.2021.104264_bib28","doi-asserted-by":"crossref","first-page":"e126","DOI":"10.5001\/omj.2020.44","article-title":"Genetics and pathophysiology of maturity onset diabetew of the young (MODY): a review of current trends","volume":"35","author":"Tajudeen","year":"2020","journal-title":"Oman Med. J."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104264_bib29","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1111\/pedi.12931","article-title":"Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy","volume":"21","author":"Tatsi","year":"2020","journal-title":"Pediatr. Diabetes"},{"key":"10.1016\/j.ejmg.2021.104264_bib30","doi-asserted-by":"crossref","first-page":"107914","DOI":"10.1016\/j.diabres.2019.107914","article-title":"Hypoglycemia and antihyperglycemic treatment in adult MODY patients - a systematic review of literature","volume":"158","author":"Urbanova","year":"2019","journal-title":"Diabetes Res. Clin. Pract."},{"issue":"7","key":"10.1016\/j.ejmg.2021.104264_bib31","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0220634","article-title":"Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?","volume":"14","author":"Urrutia","year":"2019","journal-title":"PloS One"},{"issue":"2","key":"10.1016\/j.ejmg.2021.104264_bib32","doi-asserted-by":"crossref","first-page":"110","DOI":"10.2478\/enr-2019-0013","article-title":"Novel insights into genetics and clinics of the HNF1A-MODY","volume":"53","author":"Valkovicova","year":"2019","journal-title":"Endocr. Regul."},{"issue":"10","key":"10.1016\/j.ejmg.2021.104264_bib33","doi-asserted-by":"crossref","first-page":"2864","DOI":"10.1681\/ASN.2006030277","article-title":"Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study","volume":"17","author":"Weber","year":"2006","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ejmg.2021.104264_bib35","doi-asserted-by":"crossref","first-page":"645","DOI":"10.2337\/diabetes.48.3.645","article-title":"Identification of mutations in the hepatocyte nuclear factor\u20101alpha gene in Japanese subjects with early\u2010onset NIDDM and functional analysis of the mutant proteins","volume":"48","author":"Yamada","year":"1999","journal-title":"Diabetes"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221001300?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221001300?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T06:25:24Z","timestamp":1778826324000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721221001300"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":34,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["S1769721221001300"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104264","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1\u0391 and HNF1\u0392 genes","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104264","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104264"}}