{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T16:48:12Z","timestamp":1761324492608,"version":"3.40.5"},"reference-count":59,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,12,23]],"date-time":"2022-12-23T00:00:00Z","timestamp":1671753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001807","name":"FAPESP","doi-asserted-by":"publisher","award":["2017\/14703\u20104 2013\/19920\u20102 2017\/15365\u20105"],"award-info":[{"award-number":["2017\/14703\u20104 2013\/19920\u20102 2017\/15365\u20105"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"S\u00e3o Paulo Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neonatal diabetes mellitus (NDM) is defined as the occurrence of severe hyperglycemia in infants under 6\u2009months old and may be permanent (PNDM) or transient (TNDM). When diabetes is diagnosed at 6\u201312\u00a0months of age (early onset diabetes [EOD]), the etiology may be monogenic; however, most cases consist of type 1 diabetes mellitus (T1DM). Molecular diagnosis was determined in a cohort of 35 unrelated Brazilian patients with NDM or EOD based on targeted next\u2010generation sequencing panel and\/or chromosome 6q24 abnormalities. The impact of genetic testing on treatment and follow\u2010up was evaluated. Overall, 24 patients had NDM: with 18 (75.0%) having PNDM, 5 TNDM (20.8%) and 1 case in which this information was unknown. Eleven patients had EOD. Genetic testing was positive in 20\/24 patients with NDM (83.3%) and in 18.2% of cases of EOD. The commonest causes were ATP\u2010sensitive potassium (KATP) channel genes, and <jats:italic>GCK<\/jats:italic> and <jats:italic>IPEX<\/jats:italic> mutations (37.1%, 11.4% and 5.7%, respectively). Patients with PNDM due to <jats:italic>KCNJ11<\/jats:italic> and <jats:italic>ABCC8<\/jats:italic> mutations transitioned successfully to sulfonylureas in almost 60% of cases, reinforcing the benefit of performing genetic testing in NDM as early as possible. This report refers to the largest series of cases of NDM (TNDM and PNDM) and EOD in Brazil in which patients were submitted to molecular investigation and in which the clinical impact of genetic diagnosis was also evaluated.<\/jats:p>","DOI":"10.1111\/cge.14279","type":"journal-article","created":{"date-parts":[[2022,12,13]],"date-time":"2022-12-13T05:05:03Z","timestamp":1670907903000},"page":"434-447","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil"],"prefix":"10.1111","volume":"103","author":[{"given":"Aline Dantas","family":"Costa\u2010Riquetto","sequence":"first","affiliation":[{"name":"Grupo de Diabetes Monog\u00eanico (Monogenic Diabetes Group), Unidade de Endocrinologia Gen\u00e9tica (LIM25), Unidade de Diabetes, Hospital das Cl\u00ednicas, Faculdade de Medicina Universidade de S\u00e3o Paulo (HCFMUSP)  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0428-2386","authenticated-orcid":false,"given":"Lucas Santos","family":"de Santana","sequence":"additional","affiliation":[{"name":"Grupo de Diabetes Monog\u00eanico (Monogenic Diabetes Group), Unidade de Endocrinologia Gen\u00e9tica (LIM25), Unidade de Diabetes, Hospital das Cl\u00ednicas, Faculdade de Medicina Universidade de S\u00e3o Paulo (HCFMUSP)  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro Campos","family":"Franco","sequence":"additional","affiliation":[{"name":"Grupo de Diabetes Monog\u00eanico (Monogenic Diabetes Group), Unidade de Endocrinologia Gen\u00e9tica (LIM25), Unidade de Diabetes, Hospital das Cl\u00ednicas, Faculdade de Medicina Universidade de S\u00e3o Paulo (HCFMUSP)  S\u00e3o Paulo 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