Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation. Issue 6 (24th March 2020)

• Record Type: Journal Article
• Authors: Raghuram, Nikhil; Marwaha, Ashish; Greer, Mary‐Louise C.; Gauda, Estelle; Chitayat, David
• Is Part Of: American journal of medical genetics. Volume 182:Issue 6(2020)
• Page Start: 1496
• Page End: 1499
• Publication Date: 2020-03-24
• Subjects: congenital hypothyroidism -- GATA6 -- neonatal diabetes -- pancreatic agenesis; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61569
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: GATA6 pathogenic variants primarily manifest a phenotype with pancreatic agenesis and cardiac malformations. However, additional congenital malformations affecting the biliary system, congenital diaphragmatic hernia and developmental delay have been reported. We report a newborn, prenatally diagnosed with truncus arteriosus and intrauterine growth restriction, who was postnatally found to have pancreatic agenesis associated with neonatal diabetes and hepatobiliary abnormalities. Whole exome sequencing identified a de novo, heterozygous mutation in the GATA6 gene (c.1366C>T; p.Arg456Cys). Further investigations revealed abnormalities not previously associated with GATA6 mutation, including unilateral thyroid lobe agenesis associated with congenital hypothyroidism, absent gall bladder, possible adrenal insufficiency, thrombocytopenia, and neonatal stroke.