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A novel mutation inGATA6causes pancreatic agenesis
A novel mutation inGATA6causes pancreatic agenesis
- Source :
- Pediatric Diabetes. 16:67-70
- Publication Year :
- 2014
- Publisher :
- Hindawi Limited, 2014.
-
Abstract
- Heterozygous mutations in GATA6 have been linked to pancreatic agenesis and cardiac malformations. The aim of this study was to describe a new mutation in GATA6 in an infant with pancreatic agenesis, associated with truncus arteriosus and absent gallbladder. Clinical data were obtained from chart review. Gene sequencing was performed on genomic DNA. The patient was a female infant diagnosed shortly after birth with a severe cardiac malformation, absent gallbladder, anomalous hepatic blood flow, unilateral hydronephrosis and hydroureter, neonatal diabetes, and pancreatic exocrine insufficiency. Despite prolonged intensive management care, she died at 3 months of age because of cardiac complications. Analysis of her genomic DNA revealed a novel missense mutation of GATA6. The novel mutation described in this case extends the list of GATA6 mutations causing pancreatic agenesis and cardiac malformations.
- Subjects :
- endocrine system
medicine.medical_specialty
GATA6
business.industry
Endocrinology, Diabetes and Metabolism
Gallbladder
Persistent truncus arteriosus
medicine.disease
Hydroureter
Gastroenterology
medicine.anatomical_structure
Endocrinology
Internal medicine
Diabetes mellitus
Pediatrics, Perinatology and Child Health
cardiovascular system
Internal Medicine
medicine
Missense mutation
Pancreas
business
Hydronephrosis
Subjects
Details
- ISSN :
- 1399543X
- Volume :
- 16
- Database :
- OpenAIRE
- Journal :
- Pediatric Diabetes
- Accession number :
- edsair.doi...........24264edeb9916931d7d50a7724f3d49f
- Full Text :
- https://doi.org/10.1111/pedi.12111