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GATA6 haploinsufficiency causes pancreatic agenesis in humans.

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.

SUBMITTER: Allen HL

PROVIDER: S-EPMC4062962 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature

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GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Allen Hana Lango HL Flanagan Sarah E SE Shaw-Smith Charles C De Franco Elisa E Akerman Ildem I Caswell Richard R Ferrer Jorge J Hattersley Andrew T AT Ellard Sian S

Nature genetics 20111211 1

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 transcripti ...[more]

PMID: 22158542

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