Ting Tang, Shuqi Wu, Chang Peng, Li Wang
Guizhou Children’s Hospital and Affiliated Hospital of Zunyi Medical University.
China
Frontiers in Pediatrics
Front Pediatr 2025; 13:
DOI: 10.3389/fped.2025.1572733
Abstract
Pulmonary arterial hypertension (PAH) is a rare and severe condition that has been linked to hereditary factors. Mutations in the gene encoding bone morphogenetic protein receptor 2 (BMPR2) have been identified as a cause of heritable PAH. We report the discovery of a novel point mutation combined with a deletion insertion mutation (c.621+2T>C/c.621+5_621+11delinsA) in the BMPR2 gene of an 11-year-old PAH patient lacking a family history of genetic disease (Clinical trial number: not applicable). This report expands the genetic landscape and offers a scientific foundation for early disease detection, personalized treatment strategies, and genetic counseling.
Category
Class I. Heritable Pulmonary Hypertension
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