{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T00:53:56Z","timestamp":1777510436051,"version":"3.51.4"},"reference-count":21,"publisher":"Cold Spring Harbor Laboratory","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:p>Neonatal diabetes mellitus (NDM) is a rare condition that presents with diabetes in the first few months of life. The treatment of NDM may differ depending on the genetic etiology, with numerous studies showing the benefit of sulfonylurea therapy in cases caused by mutations in <jats:italic>KCNJ11<\/jats:italic> or <jats:italic>ABCC8<\/jats:italic>. Mutations in the insulin gene (<jats:italic>INS<\/jats:italic>) have also been identified as causes of NDM; these cases are generally best treated with insulin alone. We report a case of a female infant born small for gestational age (SGA) at late preterm diagnosed with NDM at 7 wk of life who was found by rapid whole-genome sequencing to harbor a novel de novo c.26C&gt;G (p.Pro9Arg) variant in the <jats:italic>INS<\/jats:italic> gene. She presented with diabetic ketoacidosis, which responded to insulin therapy. She did not respond to empiric trial of sulfonylurea therapy early in her hospital course, and it was discontinued once a genetic diagnosis was made. Early genetic evaluation in patients presenting with NDM is essential to optimize therapeutic decision-making.<\/jats:p>","DOI":"10.1101\/mcs.a004085","type":"journal-article","created":{"date-parts":[[2019,6,13]],"date-time":"2019-06-13T22:35:13Z","timestamp":1560465313000},"page":"a004085","source":"Crossref","is-referenced-by-count":12,"title":["Neonatal diabetes mellitus due to a novel variant in the <i>INS<\/i> gene"],"prefix":"10.1101","volume":"5","author":[{"given":"Sarah E.","family":"Laurenzano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cory","family":"McFall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dipal","family":"Savla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole G.","family":"Coufal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meredith S.","family":"Wright","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari","family":"Tokita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Dimmock","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen F.","family":"Kingsmore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ron S.","family":"Newfield","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2019,6,13]]},"reference":[{"key":"2021112506190432000_5.4.a004085.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055068"},{"key":"2021112506190432000_5.4.a004085.2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.38519"},{"key":"2021112506190432000_5.4.a004085.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)60098-8"},{"key":"2021112506190432000_5.4.a004085.4","unstructured":"De Le\u00f3n DD , Stanley CA . 2008. Permanent neonatal diabetes mellitus. In GeneReviews\u00ae (ed. Adam MP , ), pp. 1993\u20132018. 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