GATA6 haploinsufficiency causes pancreatic agenesis in humans

HL Allen, SE Flanagan, C Shaw-Smith, E De Franco… - Nature …, 2012 - nature.com
HL Allen, SE Flanagan, C Shaw-Smith, E De Franco, I Akerman, R Caswell…
Nature genetics, 2012nature.com
Understanding the regulation of pancreatic development is key for efforts to develop new
regenerative therapeutic approaches for diabetes. Rare mutations in PDX1 and PTF1A can
cause pancreatic agenesis, however, most instances of this disorder are of unknown origin.
We report de novo heterozygous inactivating mutations in GATA6 in 15/27 (56%) individuals
with pancreatic agenesis. These findings define the most common cause of human
pancreatic agenesis and establish a key role for the transcription factor GATA6 in human …
Abstract
Understanding the regulation of pancreatic development is key for efforts to develop new regenerative therapeutic approaches for diabetes. Rare mutations in PDX1 and PTF1A can cause pancreatic agenesis, however, most instances of this disorder are of unknown origin. We report de novo heterozygous inactivating mutations in GATA6 in 15/27 (56%) individuals with pancreatic agenesis. These findings define the most common cause of human pancreatic agenesis and establish a key role for the transcription factor GATA6 in human pancreatic development.
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