GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes

A Bonnefond; O Sand; B Guerin; E Durand; F De Graeve; M Huyvaert; L Rachdi; J Kerr-Conte; F Pattou; M Vaxillaire; M Polak; R Scharfmann; P Czernichow; P Froguel

doi:10.1007/s00125-012-2645-7

GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes

Diabetologia. 2012 Oct;55(10):2845-2847. doi: 10.1007/s00125-012-2645-7. Epub 2012 Jul 18.

Authors

A Bonnefond^{1

2}, O Sand^{1

2}, B Guerin³, E Durand^{1

2}, F De Graeve^{1

2}, M Huyvaert^{1

2}, L Rachdi⁴, J Kerr-Conte^{2

5}, F Pattou^{2

5

6}, M Vaxillaire^{1

2}, M Polak^{4

7}, R Scharfmann⁴, P Czernichow⁷, P Froguel^{8

9

10}

Affiliations

¹ Genomics and Metabolic Diseases, CNRS UMR8199 - Lille Institute of Biology, 1, Rue du Prof Calmette, B.P. 245, 59019, Lille Cedex, France.
² Lille Nord de France University, Lille, France.
³ Department of Paediatrics, Hospital of Pau, Pau, France.
⁴ Inserm-U845, Research Center Growth and Signalling, Paris Descartes University, Sorbonne Paris Cité, Necker Hospital, Paris, France.
⁵ Inserm-U859, Lille, France.
⁶ Department of Endocrine Surgery, Hospital of Lille, Lille, France.
⁷ Department of Paediatric Endocrinology, Necker Enfants Malades Hospital, Paris, France.
⁸ Genomics and Metabolic Diseases, CNRS UMR8199 - Lille Institute of Biology, 1, Rue du Prof Calmette, B.P. 245, 59019, Lille Cedex, France. [email protected].
⁹ Lille Nord de France University, Lille, France. [email protected].
¹⁰ Department of Genomics of Common Disease, School of Public Health, Imperial College London, London, UK. [email protected].

PMID: 22806356
DOI: 10.1007/s00125-012-2645-7

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Cell Lineage
Codon / genetics
Diabetes Mellitus / congenital*
Diabetes Mellitus / genetics*
Diabetes Mellitus / pathology
Female
GATA6 Transcription Factor / genetics*
Heart Defects, Congenital / genetics*
Humans
Infant
Infant, Newborn
Insulin-Secreting Cells / pathology
Mutation / genetics*
Pancreas / abnormalities
Pancreatic Diseases / congenital*
Pancreatic Diseases / genetics

Substances

Codon
GATA6 Transcription Factor
GATA6 protein, human

Supplementary concepts

Pancreatic Agenesis, Congenital

Grants and funding

G1002084/MRC_/Medical Research Council/United Kingdom