A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes

Serge Eifes; Kishan K Chudasama; Janne Molnes; Kerstin Wagner; Tuyen Hoang; Ulrike Schierloh; Danielle Rocour-Brumioul; Stefan Johansson; Pål R Njølstad; Carine de Beaufort

doi:10.1002/ccr3.33

A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes

Clin Case Rep. 2013 Dec;1(2):86-90. doi: 10.1002/ccr3.33. Epub 2013 Nov 21.

Authors

Affiliations

¹ Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Campus Belval Esch-sur-Alzette, Luxembourg.
² KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen Bergen, Norway.
³ Pediatric Clinic/Centre Hospitalier de Luxembourg Luxembourg, Luxembourg.
⁴ KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen Bergen, Norway ; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital Bergen, Norway.
⁵ Centre Regional Hospitalier de Liege Liege, Belgium.
⁶ KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen Bergen, Norway ; Department of Pediatrics, Haukeland University Hospital Bergen, Norway ; Broad Institute of Harvard and MIT Cambridge, Massachusetts.
⁷ Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Campus Belval Esch-sur-Alzette, Luxembourg ; Pediatric Clinic/Centre Hospitalier de Luxembourg Luxembourg, Luxembourg.

PMID: 25356219
PMCID: PMC4184756
DOI: 10.1002/ccr3.33

Abstract

Diabetes in neonates is a monogenetic disease and genetic analysis is warranted to allow best treatment, prognosis, and genetic counseling. Transcription factor mutations may have a variable expression and different organs may be involved.

Keywords: Exocrine pancreas dysfunction; GATA6; heart malformation; intrauterine growth retardation; neonatal diabetes; transcription factor mutation.

Publication types

Case Reports