ReviewItalian journal of pediatrics2024
Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.
Review in Italian journal of pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 7 citations in OpenAlex.
- Phenotyping persistent pulmonary hypertension of the newborn: recognition of its persistence across world symposium on pulmonary hypertension classifications.Journal of perinatology : official journal of the California Perinatal Association · 2026Review
- Variant Class-Specific Phenotypes and Outcomes in Pediatric TBX4-Associated Pulmonary Hypertension.Pediatric pulmonology · 2026Article
- Infant with Complex Congenital Cardiac Anomalies: A Case Report and Review of Literature.Annals of African medicine · 2026Review
- Postnatally induced TBX4 insufficiency confers pulmonary hypertension and impairs lung development in infant mice.Pediatric research · 2026Article
- Pediatrics advances in 2024: choices in allergy, cardiology, critical care, endocrinology, gastroenterology, immunology, infectious diseases, neonatology, nephrology, neurology, nutrition, palliative care respiratory tract illnesses, and social media.Italian journal of pediatrics · 2025Review
- Review
- A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.Genes & genomics · 2025Article
- Therapeutic challenges and new therapeutic targets for combined capillary pulmonary hypertension: a review.Frontiers in medicine · 2025Review
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.