A novel mutation in GATA6 causes pancreatic agenesis. Issue 1 (17th January 2014)

• Record Type: Journal Article
• Authors: Stanescu, Diana E.; Hughes, Nkecha; Patel, Puja; De León, Diva D.
• Is Part Of: Pediatric diabetes. Volume 16:Issue 1(2015:Feb.)
• Page Start: 67
• Page End: 70
• Publication Date: 2014-01-17
• Subjects: Diabetes in children -- Periodicals; 616.462
• DOI: 10.1111/pedi.12111
• Languages: English
• ISSNs: 1399-543X

Abstract

<abstract abstract-type="main" id="pedi12111-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="pedi12111-para-0001">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 <italic>GATA6</italic> 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 <italic>GATA6</italic>. The novel mutation described in this case extends the list of <italic>GATA6</italic> mutations causing pancreatic agenesis and cardiac malformations.</p> </abstract>