{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:15:19Z","timestamp":1790680519864,"version":"4.1.0"},"reference-count":20,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2019,5,3]],"date-time":"2019-05-03T00:00:00Z","timestamp":1556841600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,5,3]]},"abstract":"Summary<\/jats:title>\n \n A 26-year-old man presented with a combination of permanent neonatal diabetes due to pancreatic aplasia, complex congenital heart disease, central hypogonadism and growth hormone deficiency, structural renal abnormalities with proteinuria, umbilical hernia, neurocognitive impairment and dysmorphic features. His older brother had diabetes mellitus due to pancreatic hypoplasia, complex congenital heart disease, hypospadias and umbilical hernia. Their father had an atrial septal defect, umbilical hernia and diabetes mellitus diagnosed incidentally in adulthood on employment screening. The proband\u2019s paternal grandmother had a congenital heart defect. Genetic testing of the proband revealed a novel heterozygous missense variant (Chr18:g.19761441T>C, c.1330T>C, p.Cys444Arg) in exon 4 of\n GATA6<\/jats:italic>\n , which is class 5 (pathogenic) using American College of Medical Genetics and Genomics guidelines and is likely to account for his multisystem disorder. The same variant was detected in his brother and father, but not his paternal grandmother. This novel variant of\n GATA6<\/jats:italic>\n likely occurred\n de novo<\/jats:italic>\n in the father with autosomal dominant inheritance in the proband and his brother. The case is exceptional as very few families with monogenic diabetes due to GATA6 mutations have been reported to date and we describe a new link between\n GATA6<\/jats:italic>\n and renal pathology.\n <\/jats:p>\n \n Learning points:<\/jats:title>\n \n \n Monogenic diabetes should be suspected in patients presenting with syndromic features, multisystem congenital disease, neonatal-onset diabetes and\/or a suggestive family history.<\/jats:p>\n <\/jats:list-item>\n \n Recognition and identification of genetic diabetes may improve patient understanding and empowerment and allow for better tailored management.<\/jats:p>\n <\/jats:list-item>\n \n Identification of a genetic disorder may have important implications for family planning.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n 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Adelaide Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunita M C","family":"De Sousa","sequence":"additional","affiliation":[{"name":"1Endocrine and Metabolic Unit, Royal Adelaide Hospital"},{"name":"2School of Medicine, University of Adelaide"},{"name":"4Adult Genetics Unit, Royal Adelaide Hospital"},{"name":"5Center for Cancer Biology, SA Pathology and University of South Australia Alliance, Adelaide, South Australia, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref91","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1161\/01.RES.87.8.699","article-title":"Cyclin A downregulation and p21(cip1) upregulation correlate with GATA-6-induced growth arrest in glomerular mesangial cells","volume":"87","year":"2000","journal-title":"Circulation Research"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/j.2040-1124.2011.00106.x","article-title":"Genetics and 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