{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:27:31Z","timestamp":1747193251613,"version":"3.40.5"},"reference-count":31,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2015]]},"abstract":"<b><i>Background:<\/i><\/b> Transient and permanent neonatal diabetes mellitus (NDM), usually defined as diabetes diagnosed within the first 6 months of life, are rare conditions occurring in 1:90,000-260,000 live births. The origin of NDM is rarely related to type 1 diabetes, but rather to single gene defects. <b><i>Methods:<\/i><\/b> Genetic analysis was performed using targeted parallel sequencing including 323 diabetes genes. Data were filtered by a locally developed program. <b><i>Results:<\/i><\/b> A very low birth weight neonate born at 28 weeks postmenstrual age developed diabetes 13 days after birth. The patient was treated with continuous subcutaneous insulin infusion. After 1 month, insulin treatment could be stopped. At 18 months of age, the child was normoglycemic and developing normally. Genetic analysis revealed a novel variant (p.Pro190Leu) in <i>HNF4A<\/i>, which is located in the ligand binding domain of the transcription factor, and the p.Glu23Lys variant in <i>KCNJ11<\/i>, which is associated with type 2 diabetes. <b><i>Conclusion:<\/i><\/b> Here, we describe a novel <i>HNF4A <\/i>variant associated with transient NDM in a premature infant. We hypothesize that the neonatal phenotype previously described in carriers of <i>HNF4A<\/i> mutations was modified by the additional variant in <i>KCNJ11<\/i> and prematurity.<\/jats:p>","DOI":"10.1159\/000437378","type":"journal-article","created":{"date-parts":[[2015,8,27]],"date-time":"2015-08-27T21:19:11Z","timestamp":1440710351000},"page":"283-288","source":"Crossref","is-referenced-by-count":5,"title":["Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant"],"prefix":"10.1159","volume":"84","author":[{"given":"Sabrina","family":"Anderson de la Llana","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4799-6602","authenticated-orcid":false,"given":"Philippe","family":"Klee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Santoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Stekelenburg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Louis","family":"Blouin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valerie 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