Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation

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. (By Dr. Tohru Yorifuji, http://jmg.bmj.com/content/early/2012/09/06/jmedgenet-2012-101161 )

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