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Updated: May 26, 2026

A Reverse Genetic Approach to Test Functional Redundancy During Embryogenesis
Published on: August 11, 2010
GATA6 haploinsufficiency causes pancreatic agenesis in humans
Hana Lango Allen1, Sarah E Flanagan1, Charles Shaw-Smith1
1Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.
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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