{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T02:49:18Z","timestamp":1793155758720,"version":"4.5.0"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,7,19]],"date-time":"2017-07-19T00:00:00Z","timestamp":1500422400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["#2013\/19920\u20102"],"award-info":[{"award-number":["#2013\/19920\u20102"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["#2013\/02162\u20108"],"award-info":[{"award-number":["#2013\/02162\u20108"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["#304678\/2012\u20130"],"award-info":[{"award-number":["#304678\/2012\u20130"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>Maturity\u2010Onset Diabetes of the Young (<jats:styled-content style=\"fixed-case\">MODY<\/jats:styled-content>) type 4 or <jats:italic>\n<jats:styled-content style=\"fixed-case\">PDX1<\/jats:styled-content>\n<\/jats:italic>\u2010<jats:styled-content style=\"fixed-case\">MODY<\/jats:styled-content> is a rare form of monogenic diabetes caused by heterozygous variants in <jats:italic>\n<jats:styled-content style=\"fixed-case\">PDX1<\/jats:styled-content>\n<\/jats:italic>. Pancreatic developmental anomalies related to <jats:italic>\n<jats:styled-content style=\"fixed-case\">PDX1<\/jats:styled-content>\n<\/jats:italic> are reported only in neonatal diabetes cases. Here, we describe dorsal pancreatic agenesis in 2 patients with <jats:italic>\n<jats:styled-content style=\"fixed-case\">PDX1<\/jats:styled-content>\n<\/jats:italic>\u2010<jats:styled-content style=\"fixed-case\">MODY<\/jats:styled-content>. The proband presented with diabetes since 14 years of age and maintained regular glycemic control with low doses of basal insulin and detectable C\u2010peptide levels after 38 years with diabetes. A diagnosis of <jats:styled-content style=\"fixed-case\">MODY<\/jats:styled-content> was suspected. Targeted next\u2010generation sequencing identified a heterozygous variant in <jats:italic>\n<jats:styled-content style=\"fixed-case\">PDX1<\/jats:styled-content>\n<\/jats:italic>: c.<jats:styled-content style=\"fixed-case\">188delC<\/jats:styled-content>\/p.<jats:styled-content style=\"fixed-case\">Pro63Argfs<\/jats:styled-content>*60. Computed tomography revealed caudal pancreatic agenesis. Low fecal elastase indicated exocrine insufficiency. His son had impaired glucose tolerance, presented similar pancreatic agenesis, and harbored the same allelic variant. The unusual presentation in this Brazilian family enabled expansion upon a rare disease phenotype, demonstrating the possibility of detecting pancreatic malformation even in cases of <jats:italic>\n<jats:styled-content style=\"fixed-case\">PDX1<\/jats:styled-content>\n<\/jats:italic>\u2010related diabetes diagnosed after the first year of life. This finding can improve the management of <jats:styled-content style=\"fixed-case\">MODY4<\/jats:styled-content> patients, leading to precocious investigation of pancreatic dysgenesis and exocrine dysfunction.<\/jats:p>","DOI":"10.1111\/cge.13044","type":"journal-article","created":{"date-parts":[[2017,4,24]],"date-time":"2017-04-24T12:13:19Z","timestamp":1493035999000},"page":"382-386","source":"Crossref","is-referenced-by-count":33,"title":["<i><scp>PDX1<\/scp><\/i>\u2010<scp>MODY<\/scp> and dorsal pancreatic agenesis: New phenotype of a rare disease"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4645-5858","authenticated-orcid":false,"given":"L.A.","family":"Caetano","sequence":"first","affiliation":[{"name":"Monogenic Diabetes Group, Genetic Endocrinology Unit\/LIM25, School of Medicine University of Sao Paulo (USP)  Sao Paulo Brazil"},{"name":"Diabetes Unit, Clinics Hospital School of Medicine\/USP  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0428-2386","authenticated-orcid":false,"given":"L.S.","family":"Santana","sequence":"additional","affiliation":[{"name":"Monogenic Diabetes Group, Genetic Endocrinology Unit\/LIM25, School of Medicine University of Sao Paulo (USP)  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.D.","family":"Costa\u2010Riquetto","sequence":"additional","affiliation":[{"name":"Monogenic Diabetes Group, Genetic Endocrinology Unit\/LIM25, School of Medicine University of Sao Paulo (USP)  Sao Paulo Brazil"},{"name":"Diabetes Unit, Clinics Hospital School of Medicine\/USP  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.M.","family":"Lerario","sequence":"additional","affiliation":[{"name":"Monogenic Diabetes Group, Genetic Endocrinology Unit\/LIM25, School of Medicine University of Sao Paulo (USP)  Sao Paulo Brazil"},{"name":"Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes University of Michigan  Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Nery","sequence":"additional","affiliation":[{"name":"Diabetes Unit, Clinics Hospital School of Medicine\/USP  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.F.","family":"Nogueira","sequence":"additional","affiliation":[{"name":"Institute of Radiology, Clinics Hospital School of Medicine\/USP  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.D.","family":"Ortega","sequence":"additional","affiliation":[{"name":"Institute of Radiology, Clinics Hospital School of Medicine\/USP  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.S.","family":"Rocha","sequence":"additional","affiliation":[{"name":"Department of Radiology and Oncology School of Medicine\/USP  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.A.L.","family":"Jorge","sequence":"additional","affiliation":[{"name":"Monogenic Diabetes Group, Genetic Endocrinology Unit\/LIM25, School of Medicine University of Sao Paulo (USP)  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.G.","family":"Teles","sequence":"additional","affiliation":[{"name":"Monogenic Diabetes Group, Genetic Endocrinology Unit\/LIM25, School of Medicine University of Sao Paulo (USP)  Sao Paulo Brazil"},{"name":"Diabetes Unit, Clinics Hospital School of Medicine\/USP  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-138"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-106"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.197"},{"issue":"9","key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"4398","DOI":"10.1210\/jc.2003-030046","article-title":"Agenesis of human pancreas due to decreased half\u2010life of insulin promoter factor 1","volume":"88","author":"Schwitzgebel VM","year":"2003","journal-title":"J Clin Endocrinol 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inhibitor use in a patient with a novel mutation of MODY type 4","volume":"8","author":"Mangrum C","year":"2015","journal-title":"Clin Med Insights Endocrinol Diabetes"},{"issue":"11","key":"e_1_2_7_13_1","first-page":"1265","article-title":"Molecular diagnosis of maturity\u2010onset diabetes of the young (MODY) in Turkish children by using targeted next\u2010generation sequencing","volume":"28","author":"Anik A","year":"2015","journal-title":"J Pediatr Endocrinol 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