A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: A case report

Abstract Permanent neonatal diabetes mellitus is a rare condition mostly due to heterozygous mutations in the KCNJ11 , ABCC8 and INS genes. Neonatal diabetes due to pancreatic agenesis is extremely rare. Mutations in PDX1 , PTF1A, HNF1B , EIF2AK3, RFX6 and GATA6 genes have been shown to result in pa...

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Bibliographic Details
Published in:Diabetes & metabolism 2013-09, Vol.39 (4), p.370-374
Main Authors: Catli, G, Abaci, A, Flanagan, S.E, De Franco, E, Ellard, S, Hattersley, A, Guleryuz, H, Bober, E
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
Cardiology. Vascular system
Cholestase
Cholestasis
Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava
Diabetes Mellitus - genetics
Diabetes. Impaired glucose tolerance
Diabète néonatal
Endocrine pancreas. Apud cells (diseases)
Endocrinology & Metabolism
Endocrinopathies
Etiopathogenesis. Screening. Investigations. Target tissue resistance
Gastroenterology. Liver. Pancreas. Abdomen
GATA6
GATA6 gene
GATA6 Transcription Factor - genetics
Heart
Heart Defects, Congenital - complications
Heart Defects, Congenital - genetics
Humans
Infant
Internal Medicine
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Medical sciences
Mutation, Missense
Neonatal diabetes mellitus
Other diseases. Semiology
Pulmonary Valve Stenosis - complications
Pulmonary Valve Stenosis - congenital
Pulmonary Valve Stenosis - genetics
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Summary:Abstract Permanent neonatal diabetes mellitus is a rare condition mostly due to heterozygous mutations in the KCNJ11 , ABCC8 and INS genes. Neonatal diabetes due to pancreatic agenesis is extremely rare. Mutations in PDX1 , PTF1A, HNF1B , EIF2AK3, RFX6 and GATA6 genes have been shown to result in pancreatic agenesis or hypoplasia. This report describes a 40-day-old male infant diagnosed with permanent neonatal diabetes associated with atrial septal defect, pulmonary stenosis, patent ductus arteriosus and a novel de novo heterozygous missense mutation (p.N466S) in the GATA6 gene with no evidence of exocrine pancreas insufficiency. In addition to permanent neonatal diabetes, the patient had transient idiopathic neonatal cholestasis and hypoglycaemic episodes unrelated to insulin treatment, features that are rarely described in children with permanent neonatal diabetes.
ISSN:1262-3636
1878-1780
DOI:10.1016/j.diabet.2013.01.005