In mice models, PTF1A inactivation reverted pancreatic cells to intestinal cells, suggesting its function as a switch between pancreatic and intestinal cell fates (24) and PTF1A dose reduction resulted in pancreatic hypoplasia and insufficient insulin secretion in a dosage dependent manner (22).
Reduction of Ptf1a gene dosage causes pancreatic hypoplasia and diabetes in mice.
The Mitchell Riley Syndrome is a recently diagnosed genetic disorder characterised by neonatal diabetes, pancreatic hypoplasia, intestinal atresia, malrotation, biliary atresia, and gallbladder aplasia or hypoplasia.
We report a case with neonatal diabetes, pancreatic hypoplasia gall bladder agenesis, duodenal atresia, haemochromatosis, hypospadias and intrauterine growth restriction with some additional features along with a different mutation in the RFX6 gene which has not been reported before.
The Mitchell-Riley syndrome (1) is a recently diagnosed genetic disorder characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia and/or malrotation, biliary atresia, and gallbladder aplasia or hypoplasia (2).