{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T05:58:17Z","timestamp":1773813497087,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2010,6,8]],"date-time":"2010-06-08T00:00:00Z","timestamp":1275955200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Diabetic Medicine"],"published-print":{"date-parts":[[2010,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Diabet. Med. 27, 1195\u20131200 (2010)<\/jats:p><\/jats:sec><jats:sec><jats:title>Abstract<\/jats:title><jats:p><jats:bold>Aims\u2002<\/jats:bold> Permanent neonatal diabetes is a rare condition affecting 1 in 300\u2003000\u2013400\u2003000 live births; only in 60% of cases it is possible to identify the genetic defect. The condition of pancreatic agenesis is rarer still. Only two genes are known to determine this phenotype: <jats:italic>PDX\u20101<\/jats:italic> and <jats:italic>PTF1A.<\/jats:italic> Congenital heart defects are among the most common developmental anomalies, affecting 1% of newborns, and the <jats:italic>GATA4<\/jats:italic> gene is less frequently involved in these disorders. An Italian child with pancreatic agenesis and an atrial septal defect was genetically investigated to elucidate whether the association of the two pathologies was casual, or represented a new pancreatic\/cardiac syndrome.<\/jats:p><jats:p><jats:bold>Methods\u2002<\/jats:bold> A panel of pancreas development genes, including <jats:italic>GCK, Kir6.2, PTF1A, PDX\u20101, HNF\u20101A, NgN3, SOX17, SOX7, SOX9<\/jats:italic>, <jats:italic>INS, HNF1\u2010B and SUR1<\/jats:italic> plus the <jats:italic>GATA4<\/jats:italic> gene, were screened for characterization of pancreatic agenesis and cardiac defect.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> Screening for genes causing permanent neonatal diabetes was negative. A novel mutation in <jats:italic>GATA4<\/jats:italic> (c1512C&gt;T) was detected and functional characterization confirmed a reduced activity of the protein. In the family members, the <jats:italic>GATA4<\/jats:italic> mutation co\u2010segregates with a cardiac phenotype, but not with pancreatic agenesis.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> We describe the first report of pancretic agenesis with an associated cardiac defect and a mutation in the <jats:italic>GATA4<\/jats:italic> gene. We could not establish that the <jats:italic>GATA4<\/jats:italic> mutation was causative for pancreatic agenesis and further genetic investigation to detect the genetic cause of the pancreas agenesis was unsuccessful. We conclude that, the two pathologies are attributable to two independent events.<\/jats:p><\/jats:sec>","DOI":"10.1111\/j.1464-5491.2010.03046.x","type":"journal-article","created":{"date-parts":[[2010,6,8]],"date-time":"2010-06-08T11:50:00Z","timestamp":1275997800000},"page":"1195-1200","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial <i>GATA4<\/i> gene mutation, and neonatal diabetes due to pancreatic 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