Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation

Nikhil Raghuram, Ashish Marwaha, Mary Louise C. Greer, Estelle Gauda, David Chitayat

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1496-1499
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number6
StatePublished - Jun 1 2020


  • GATA6
  • congenital hypothyroidism
  • neonatal diabetes
  • pancreatic agenesis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation'. Together they form a unique fingerprint.

Cite this