{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T01:02:23Z","timestamp":1778115743563,"version":"3.51.4"},"reference-count":29,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"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":[[2013]]},"abstract":"<b><i>Background:<\/i><\/b><i>GATA6<\/i> mutations are the most frequent cause of pancreatic agenesis and diabetes in human sporadic cases. In families, dominantly inherited mutations show a variable phenotype also in terms of endocrine and exocrine pancreatic disease. We report two novel <i>GATA6<\/i> mutations in an independent cohort of 8 children with pancreas aplasia or hypoplasia and diabetes. <b><i>Methods:<\/i><\/b> We sequenced <i>GATA6<\/i> in 8 children with diabetes and inborn pancreas abnormalities, i.e. hypoplasia or aplasia in which other known candidate genes causing monogenic diabetes and pancreatic defects had been excluded. <b><i>Results:<\/i><\/b> We found two novel heterozygous <i>GATA6<\/i> mutations (c.951_954dup and c.754_904del) in 2 patients with sporadic pancreas hypoplasia, diabetes and severe cardiac defects (common truncus arteriosus and tetralogy of Fallot), but not in the remaining 6 patients. <i>GATA6<\/i> mutations in carriers exhibited hypoplastic pancreas with absent head in 1 patient and with increased echogenicity and decreasing exocrine function in the other patient. Additionally, hepatobiliary malformations and brain atrophy were found in 1 patient. <b><i>Conclusion:<\/i><\/b> Our 2 cases with novel <i>GATA6<\/i> mutations add more phenotype characteristics of <i>GATA6<\/i> haploinsufficiency. In agreement with an increasing number of published cases, the wide phenotypic spectrum of GATA6 diabetes syndrome should draw the attention of both pediatric endocrinologists and geneticists.<\/jats:p>","DOI":"10.1159\/000348844","type":"journal-article","created":{"date-parts":[[2013,5,7]],"date-time":"2013-05-07T09:04:44Z","timestamp":1367917484000},"page":"250-256","source":"Crossref","is-referenced-by-count":29,"title":["Two Novel GATA6 Mutations Cause Childhood-Onset Diabetes Mellitus, Pancreas Malformation and Congenital Heart Disease"],"prefix":"10.1159","volume":"79","author":[{"given":"Maolian","family":"Gong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deimante","family":"Simaite","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"K\u00fchnen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Heldmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Spagnoli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Blankenstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norbert","family":"H\u00fcbner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Hussain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klemens","family":"Raile","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2013,4,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01613.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-106"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.2337\/db10-0011"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-0029"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-3543"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1035"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.2337\/db12-0885"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2004.06.007"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.06.046"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01978"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210\/me.2004-0051"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1172\/JCI63240"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1172\/JCI63352"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-012-2645-7"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101161"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1089\/dna.2012.1814"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-201011001-00549"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0904744106"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-11-0208"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038\/ng1708"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1136\/gutjnl-2012-303328"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181ed17e4"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.84"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1126\/science.6844926"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhl082"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1152\/ajpgi.00421.2003"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.21.21.7320-7330.2001"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2010.02965.x"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.197"}],"container-title":["Hormone 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