{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T18:02:24Z","timestamp":1770919344063,"version":"3.50.1"},"reference-count":23,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,1,1]]},"abstract":"<jats:sec>\n                  <jats:title>Objectives.<\/jats:title>\n                  <jats:p>The factors determining the pathogenesis of transient and permanent neonatal diabetes mellitus are poorly characterized. The purpose of this study was to examine the role of chromosome 6 in the pathogenesis of neonatal diabetes mellitus and to detect differences between these 2 phenotypes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods.<\/jats:title>\n                  <jats:p>Microsatellite markers (D6S334, D6S286, D6S310, D6S308, D6S292, D6S311, and D6S403) and human leukocyte antigen DQ alleles were examined using polymerase chain reaction and DNA fragment electrophoresis in 3 patients with transient and 3 patients with permanent neonatal diabetes mellitus. Humoral markers of islet cell autoimmunity and clinical characteristics were analyzed in the 2 groups.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results.<\/jats:title>\n                  <jats:p>A patient with transient neonatal diabetes mellitus (TND) and macroglossia carrying paternal uniparental isodisomy (UPD) of chromosome 6 has been identified. The isodisomy affected the whole chromosome; no maternal chromosome 6 sequences were detected. The permanent neonatal diabetes mellitus cases and the other 2 cases with TND did not have UPD. None of the patients had high-risk type 1 diabetes human leukocyte antigen DQ alleles and most infants were negative for islet cell-specific autoantibodies indicating that none of the 2 forms of neonatal diabetes mellitus is likely to be of autoimmune origin. An association of TND and persistent granulocytopenia is described for the first time.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions.<\/jats:title>\n                  <jats:p>We propose that transient and permanent forms of neonatal diabetes mellitus have different genetic background and represent different disease entities. TND is associated with UPD of chromosome 6 suggesting that an imprinted gene on chromosome 6 is responsible for this phenotype. It seems that 2 copies of the paternal allele are necessary for the development of TND; therefore, it is likely that overexpression of a putative gene located on chromosome 6 alters pancreatic \u03b2-cell maturation and insulin secretion.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1542\/peds.105.1.49","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T23:50:41Z","timestamp":1092441041000},"page":"49-52","source":"Crossref","is-referenced-by-count":48,"title":["Transient but Not Permanent Neonatal Diabetes Mellitus is Associated With Paternal Uniparental Isodisomy of Chromosome 6"],"prefix":"10.1542","volume":"105","author":[{"given":"Robert","family":"Hermann","sequence":"first","affiliation":[{"name":"From the Department of Pediatrics, University Medical School of Pe\u0301cs, Pe\u0301cs, Hungary;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antti-Pekka","family":"Laine","sequence":"additional","affiliation":[{"name":"Turku Immunology Centre and Department of Virology, University of Turku, Turku, Finland;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Calle","family":"Johansson","sequence":"additional","affiliation":[{"name":"Ryhov Hospital, Jo\u0308nko\u0308ping, Sweden;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamas","family":"Niederland","sequence":"additional","affiliation":[{"name":"County Hospital, Gyor, Hungary; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lidia","family":"Tokarska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Jagellonian University Collegium Medicum Children's Hospital, Krakow, Poland."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanna","family":"Dziatkowiak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Jagellonian University Collegium Medicum Children's Hospital, Krakow, Poland."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorma","family":"Ilonen","sequence":"additional","affiliation":[{"name":"Turku Immunology Centre and Department of Virology, University of Turku, Turku, Finland;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gyula","family":"Solte\u0301sz","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, University Medical School of Pe\u0301cs, Pe\u0301cs, Hungary;"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2000,1,1]]},"reference":[{"key":"2021121010285894400_B1","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1056\/NEJM199509143331105","article-title":"Long-term course of neonatal diabetes.","volume":"333","author":"Von Muhlendahl","year":"1995","journal-title":"N Engl J 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