Chiara Maddaloni, Sara Ronci, Domenico Umberto De Rose, Iliana Bersani, Francesca Campi, Matteo Di Nardo, Francesca Stoppa, Rachele Adorisio, Antonio Amodeo, Alessandra Toscano, Maria Cristina Digilio, Antonio Novelli, Giovanni Chello, Annabella Braguglia, Andrea Dotta, Flaminia Calzolar
“Bambino Gesù” Children’s Hospital IRCCS. Monaldi Hospital.
Italy
Italian Journal of Pediatrics
Ital J Pediatr 2024; 50:
DOI: 10.1186/s13052-024-01575-3
Abstract
TBX4 gene, located on human chromosome 17q23.2, encodes for T-Box Transcription Factor 4, a transcription factor that belongs to the T-box gene family and it is involved in the regulation of some embryonic developmental processes, with a significant impact on respiratory and skeletal illnesses. Herein, we present the case of a female neonate with persistent pulmonary hypertension (PH) who underwent extracorporeal membrane oxygenation (ECMO) on the first day of life and then resulted to have a novel variant of the TBX4 gene identified by Next-Generation Sequencing. We review the available literature about the association between PH with neonatal onset or emerging during the first months of life and mutations of the TBX4 gene, and compare our case to previously reported cases. Of 24 cases described from 2010 to 2023 sixteen (66.7%) presented with PH soon after birth. Skeletal abnormalities have been described in 5 cases (20%). Eleven cases (46%) were due to de novo mutations. Three patients (12%) required ECMO. Identification of this variant in affected individuals has implications for perinatal and postnatal management and genetic counselling. We suggest including TBX4 in genetic studies of neonates with pulmonary hypertension, even in the absence of skeletal abnormalities.
Category
Class I. Persistent Pulmonary Hypertension of the Newborn
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes