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Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation
Author(s) -
Raghuram Nikhil,
Marwaha Ashish,
Greer MaryLouise C.,
Gauda Estelle,
Chitayat David
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61569
Subject(s) - gata6 , truncus arteriosus , congenital diaphragmatic hernia , agenesis , medicine , exome sequencing , diaphragmatic hernia , mutation , endocrinology , biology , pregnancy , fetus , genetics , heart disease , gene , anatomy , tetralogy of fallot , hernia , surgery , transcription factor
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.