Progress on TBX4 gene mutation in children with pulmonary arterial hypertension
10.3760/cma.j.issn.1673-4408.2025.03.007
- VernacularTitle:TBX4基因变异在儿童肺动脉高压中的研究进展
- Author:
Ziang LIU
1
;
Yalan LIU
Author Information
1. 华中科技大学同济医学院附属协和医院儿科,武汉 430022
- Keywords:
Children;
TBX4;
Mutation;
Pulmonary arterial hypertension
- From:
International Journal of Pediatrics
2025;52(3):175-179
- CountryChina
- Language:Chinese
-
Abstract:
Pulmonary arterial hypertension（PAH）is a rare disease with a high case fatality rate despite improved treatment of PAH in recent years.Studies of the genetics of childhood-onset PAH have confirmed that the genetic load is greater in children than in adults；and hereditary PAH accounts for a higher proportion of PAH in children.Growing evidences now suggest T-box transcription factor 4（TBX4）gene is a role causative effect for PAH，and is the second most commonly mutated gene for PAH in children.Nevertheless，the mechanism of TBX4 gene in PAH remains to be investigated.Current studies have shown that multiple factors and signaling pathways are involved in the development and progression of PAH，with the fibroblast growth factor 10 pathway being a typical example.Meanwhile，TBX4 gene mutation also contributes to the development of PAH by damaging the endothelial cells of the pulmonary vasculature and promoting fibrosis of the pulmonary arteries.Recent studies have shown that overexpression of the TBX4 gene also plays a role in the development of PAH.This article reviews the characteristics and mutations of TBX4 gene，and outline the pathogenic features and molecular mechanisms of TBX4 mutation in children with PAH，providing new ideas for PAH treatment strategies.
