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A novel mutation in GATA6 causes pancreatic agenesis
Author(s) -
Stanescu Diana E.,
Hughes Nkecha,
Patel Puja,
De León Diva D.
Publication year - 2015
Publication title -
pediatric diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.678
H-Index - 75
eISSN - 1399-5448
pISSN - 1399-543X
DOI - 10.1111/pedi.12111
Subject(s) - gata6 , medicine , missense mutation , truncus arteriosus , agenesis , haploinsufficiency , mutation , cardiology , gastroenterology , genetics , heart disease , biology , surgery , gene , transcription factor , tetralogy of fallot , phenotype
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.