{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:24:01Z","timestamp":1791271441519,"version":"4.1.0"},"reference-count":27,"publisher":"American Diabetes Association","issue":"7","content-domain":{"domain":["diabetesjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2007,7,1]]},"abstract":"<jats:p>Transient neonatal diabetes mellitus (TNDM) is diagnosed in the first 6 months of life, with remission in infancy or early childhood. For \u223c50% of patients, their diabetes will relapse in later life. The majority of cases result from anomalies of the imprinted region on chromosome 6q24, and 14 patients with ATP-sensitive K+ channel (KATP channel) gene mutations have been reported. We determined the 6q24 status in 97 patients with TNDM. In patients in whom no abnormality was identified, the KCNJ11 gene and\/or ABCC8 gene, which encode the Kir6.2 and SUR1 subunits of the pancreatic \u03b2-cell KATP channel, were sequenced. KATP channel mutations were found in 25 of 97 (26%) TNDM probands (12 KCNJ11 and 13 ABCC8), while 69 of 97 (71%) had chromosome 6q24 abnormalities. The phenotype associated with KCNJ11 and ABCC8 mutations was similar but markedly different from 6q24 patients who had a lower birth weight and who were diagnosed and remitted earlier (all P &amp;lt; 0.001). KATP channel mutations were identified in 26 additional family members, 17 of whom had diabetes. Of 42 diabetic patients, 91% diagnosed before 6 months remitted, but those diagnosed after 6 months had permanent diabetes (P &amp;lt; 0.0001). KATP channel mutations account for 89% of patients with non-6q24 TNDM and result in a discrete clinical subtype that includes biphasic diabetes that can be treated with sulfonylureas. Remitting neonatal diabetes was observed in two of three mutation carriers, and permanent diabetes occurred after 6 months of age in subjects without an initial diagnosis of neonatal diabetes.<\/jats:p>","DOI":"10.2337\/db07-0043","type":"journal-article","created":{"date-parts":[[2007,6,27]],"date-time":"2007-06-27T16:33:45Z","timestamp":1182962025000},"page":"1930-1937","update-policy":"https:\/\/doi.org\/10.2337\/ada-journal-policies","source":"Crossref","is-referenced-by-count":299,"title":["Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood"],"prefix":"10.2337","volume":"56","author":[{"given":"Sarah E.","family":"Flanagan","sequence":"first","affiliation":[{"name":"Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, U.K"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann-Marie","family":"Patch","sequence":"additional","affiliation":[{"name":"Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, U.K"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah J.G.","family":"Mackay","sequence":"additional","affiliation":[{"name":"Wessex Regional Genetics Laboratories, Salisbury District Hospital, Salisbury, U.K"},{"name":"Division of Human Genetics, Southampton University, Southampton, U.K"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma L.","family":"Edghill","sequence":"additional","affiliation":[{"name":"Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, U.K"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna L.","family":"Gloyn","sequence":"additional","affiliation":[{"name":"Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, U.K"},{"name":"Diabetes Research Laboratories, Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, U.K"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Robinson","sequence":"additional","affiliation":[{"name":"Wessex Regional Genetics Laboratories, Salisbury District Hospital, Salisbury, U.K"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian P.H.","family":"Shield","sequence":"additional","affiliation":[{"name":"The Royal Hospital for Children, Bristol, U.K"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Temple","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Southampton University, Southampton, U.K"},{"name":"Wessex Clinical Genetics Service, National Health Service Trust, Southampton, U.K"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[{"name":"Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, U.K"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew T.","family":"Hattersley","sequence":"additional","affiliation":[{"name":"Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, U.K"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1167","reference":[{"key":"2022031208183755500_R1","doi-asserted-by":"crossref","unstructured":"Temple IK, Gardner RJ, Mackay DJ, Barber JC, Robinson DO, Shield JP: Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. 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