Flaminia Pugnaloni, Ludovica Martini, Domenico Umberto De Rose, Francesca Landolfo, Paola Giliberti, Rosario Ruta, Antonio Novelli, Novella Rapini, Fabrizio Barbetti, Alessandra Toscano, Andrea Conforti, Pietro Bagolan, Irma Capolupo, Andrea Dotta
“Bambino Gesù” Children’s Hospital Istituto di Ricovero e Cura a Carattere Scientifico. University of Rome “Tor Vergata”.
Italy
Hormone Research in Paediatrics
Horm Res Paediatr 2025; 98: 282-288
DOI: 10.1159/000536621
Abstract
Introduction: GATA6 is a gene that encodes a transcription factor with a key role in the development of several organ systems, including the development of the pancreas. It is associated with neonatal diabetes but also with other extra-pancreatic anomalies.
Case presentation: This report describes the association of tracheoesophageal fistula (TEF), pulmonary vein stenosis (PVS), and neonatal diabetes caused by a novel mutation of the GATA6 gene in a small for gestational-age male neonate born at 32 weeks of gestation. Next-generation sequencing revealed the novel heterozygous variant c.1502C>G in the GATA6 gene, which determines the introduction of the premature stop codon p.Ser501Ter at the protein level. This de novo nonsense variant was not detected in the analyzed parental DNA samples and has not been previously described in the literature. At about 2 months of life, a PVS was suspected. The PVS progressively increased with the development of an intramural component, resulting in severe postcapillary pulmonary hypertension. The child died at about 4 months of life.
Conclusion: TEF can be associated with GATA6 variants. In the case of neonatal diabetes and TEF, neonatologists should be aware of this association and should also investigate the child for complex congenital heart disorders, such as in our case, with a cardiac computed tomography.
Category
Stenosis or Obstruction of Normal Pulmonary Venous Connections
Genetic Factors Influencing the Onset, Severity or Outcome of Disease
Length of Life Associated with Pulmonary Venous Obstruction
Year of Publication: 2025
Age Focus: Pediatric
Article Type: Case Reports or Retrospective Observations in Small Groups of Patients (≤10 patients)
Article Access: Free PDF File or Full Text Article Available Through PubMed or DOI: No