Pancreatic Agenesis and Congenital Heart Defects [PACHD, OMIM#600001] is characterized by neonatal diabetes mellitus and congenital heart defects. Intrafamiliar variability has been reported with regard to both severity of diabetes (ranging from neonatally lethal diabetes to adult-onset diabetes associated with agenesis of the pancreas) and the types of congenital cardiac defects in affected individuals. The most common congenital cardiac defects include atrial septal defects, ventral septal defects and tetralogy of fallot.
Mutations in the GATA6 [OMIM#601656] gene have been reported in patients with PACHD. Lango Allen et al, 2011 identified mutations in GATA6 in 56% of subjects with pancreatic agenesis. GATA6 is a member of a GATA family of zinc-finger transcriptional regulators, which bind to the common WGATAR motif in the regulatory regions of many genes.
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