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A novel mutation inGATA6causes pancreatic agenesis

A novel mutation inGATA6causes pancreatic agenesis

Authors :
Diana E. Stanescu
Diva D. De León
Puja Patel
Nkecha Hughes
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.

Details

ISSN :
1399543X
Volume :
16
Database :
OpenAIRE
Journal :
Pediatric Diabetes
Accession number :
edsair.doi...........24264edeb9916931d7d50a7724f3d49f
Full Text :
https://doi.org/10.1111/pedi.12111