CASE REPORT article
Front. Pediatr.
Sec. Pediatric Cardiology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1572733
Pulmonary arterial hypertension in Children Caused by a New Mutation in the BMPR2 Gene
Provisionally accepted
- 1Zunyi Medical University, Zunyi, China
- 2Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou Province, China
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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.
Keywords: pulmonary arterial hypertension, BMPR2 mutation, Deletion insertion mutation, Children, PAH
Received: 07 Feb 2025; Accepted: 30 Apr 2025.
Copyright: © 2025 Tang, Wu, Peng and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Chang Peng, Affiliated Hospital of Zunyi Medical University, Zunyi, 563000, Guizhou Province, China
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