{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T20:53:48Z","timestamp":1681851228705},"reference-count":12,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0462_abs_001_w2aab3b7c55b1b6b1aab1c16b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Neonatal diabetes mellitus (NDM) is a rare monogenic diabetes form, occurring mainly from ATP-binding cassette subfamily C member 8 (<jats:italic>ABCC8<\/jats:italic>) and <jats:italic>KCNJ11<\/jats:italic> mutations. <jats:italic>ABCC8<\/jats:italic> mutations have also been found to cause adult-onset diabetes. What is new?: \u2022Novel <jats:italic>ABCC8<\/jats:italic> mutation in an NDM case \u2022Heterogeneous clinical presentation of diabetes and response to sulfonylurea therapy among family members with the same <jats:italic>ABCC8<\/jats:italic> mutation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0462_abs_002_w2aab3b7c55b1b6b1aab1c16b2Aa\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We report the case of a newborn with\u00a0NDM and a heterozygous <jats:italic>ABCC8<\/jats:italic> novel variant (c.3835G&gt;A), successfully treated with sulfonylurea. The same <jats:italic>ABCC8<\/jats:italic> variant was found in two other family members, already treated for type 2 diabetes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0462_abs_003_w2aab3b7c55b1b6b1aab1c16b3Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This case demonstrates the variable phenotypic presentation of diabetes due to a novel <jats:italic>ABCC8<\/jats:italic> mutation\u00a0(c.3835G&gt;A), ranging from transient NDM to adult-onset, insulin-demanding diabetes, among family members. Genetic testing in young individuals with a strong family history of diabetes, presenting with non-autoimmune diabetes is recommended as it can determine prognosis and\u00a0treatment of affected family members.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0462","type":"journal-article","created":{"date-parts":[[2020,11,17]],"date-time":"2020-11-17T08:16:03Z","timestamp":1605600963000},"page":"273-276","source":"Crossref","is-referenced-by-count":1,"title":["Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (<i>ABCC8<\/i>) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family"],"prefix":"10.1515","volume":"34","author":[{"given":"Eleni Z","family":"Giannopoulou","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine , Division of Pediatric Endocrinology and Diabetes, Ulm University , Ulm , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"Ovcarov","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine , Division of Pediatric Endocrinology and Diabetes, Ulm University , Ulm , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"De Franco","sequence":"additional","affiliation":[{"name":"College of Medicine and Health, University of Exeter Medical School , Exeter , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabian","family":"Kassberger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine , Klinikum G\u00f6ppingen , G\u00f6ppingen , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Nusser","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine , Klinikum G\u00f6ppingen , G\u00f6ppingen , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie Celine","family":"Otto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine , Klinikum G\u00f6ppingen , G\u00f6ppingen , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Denzer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine , Division of Pediatric Endocrinology and Diabetes, Ulm University , Ulm , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Wabitsch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine , Division of Pediatric Endocrinology and Diabetes, Ulm University , Ulm , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,11,13]]},"reference":[{"key":"2023040100571174326_j_jpem-2020-0462_ref_001_w2aab3b7c55b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"De Franco, E, Flanagan, SE, Houghton, JA, Lango Allen, H, Mackay, DJ, Temple, IK, et al.. 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