{"id":357,"date":"2012-09-07T20:53:50","date_gmt":"2012-09-07T20:53:50","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=357"},"modified":"2026-02-25T20:33:26","modified_gmt":"2026-02-25T20:33:26","slug":"dominantly-inherited-diabetes-mellitus-caused-by-gata6-haploinsufficiency-variable-intrafamilial-presentation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/09\/07\/dominantly-inherited-diabetes-mellitus-caused-by-gata6-haploinsufficiency-variable-intrafamilial-presentation\/","title":{"rendered":"Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation (Contributed by Dr. Tohru Yorifuji)"},"content":{"rendered":"

So far, abnormality of the GATA6 gene has been linked to only two clinical conditions: congenital heart malformation and recently described pancreatic agenesis. Previously reported cases of GATA6 pancreatic disease were sporadic and born with a total or near-total absence of the pancreas, most of them accompanied by severe neonatal diabetes mellitus and heart malformation. Through this communication, however, it became apparent that the spectrum of GATA6 pancreatic disease is broader. It could be inherited and, within a single family, the severity could be variable from a neonatally-lethal, near-total absence to only a partial defect of the pancreas compatible with adult life. (http:\/\/jmg.bmj.com\/content\/early\/2012\/09\/06\/jmedgenet-2012-101161<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

So far, abnormality of the GATA6 gene has been linked to only two clinical conditions: congenital heart malformation and recently described pancreatic agenesis. Previously reported cases of GATA6 pancreatic disease were sporadic and born with a total or near-total absence of the pancreas, most of them accompanied by severe neonatal diabetes mellitus and heart malformation. […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-357","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nDominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation (Contributed by Dr. Tohru Yorifuji) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2012\/09\/07\/dominantly-inherited-diabetes-mellitus-caused-by-gata6-haploinsufficiency-variable-intrafamilial-presentation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation (Contributed by Dr. Tohru Yorifuji) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"So far, abnormality of the GATA6 gene has been linked to only two clinical conditions: congenital heart malformation and recently described pancreatic agenesis. 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