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 agenesis

Abstract

We describe the first report of pancretic agenesis with an associated cardiac defect and a mutation in the GATA4 gene. We could not establish that the GATA4 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.