GATA6 haploinsufficiency causes pancreatic agenesis in humans

Nat Genet. 2011 Dec 11;44(1):20-22. doi: 10.1038/ng.1035.

Hana Lango Allen ^# ¹, Sarah E Flanagan ^# ¹, Charles Shaw-Smith ^# ¹, Elisa De Franco ^# ¹, Ildem Akerman ² ³ ⁴, Richard Caswell ¹, International Pancreatic Agenesis Consortium, Jorge Ferrer ² ³ ⁴, Andrew T Hattersley ¹, Sian Ellard ¹

Affiliations

1 Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.
2 Genomic Programming of Beta-cells Laboratory, Institut d'Investigacions August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
3 Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Barcelona, Spain.
4 Department of Endocrinology and Nutrition, Hospital Clínic de Barcelona, Barcelona, Spain.
# Contributed equally.

PMID: 22158542 DOI: 10.1038/ng.1035

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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