GATA6 Haploinsufficiency Causes Pancreatic Agenesis in Humans

Overview

Journal Nat Genet

Specialty Genetics

Date 2011 Dec 14

PMID 22158542

Citations 140

Authors

Hana Lango Allen

Sarah E Flanagan

Charles Shaw-Smith

Elisa De Franco

Ildem Akerman

Richard Caswell

Jorge Ferrer

Andrew T Hattersley

Sian Ellard

Affiliations

Soon will be listed here.

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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