Key result
A novel pathogenic mutation (c.621+2T>C/c.621+5_621+11delinsA) in the BMPR2 gene was identified as the cause of severe pulmonary arterial hypertension in an 11-year-old boy.
Why the study?
Pulmonary arterial hypertension is linked to hereditary factors including BMPR2 mutations, but novel causative mutations continue to emerge.
Case Report (n=1)
This case report identifies a novel BMPR2 mutation (c.621+2T>C/c.621+5_621+11delinsA) in a pediatric patient with PAH, expanding the genetic landscape of heritable PAH.
May broaden genetic evaluation in sporadic pediatric PAH; extends BMPR2 mutation spectrum but leaves pathogenicity and utility open.
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.
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Tang et al. (2025) conducted a case report in Pulmonary arterial hypertension (n=1). BMPR2 gene mutation (c.621+2T>C/c.621+5_621+11delinsA) was evaluated on Identification of genetic mutation. A novel pathogenic mutation (c.621+2T>C/c.621+5_621+11delinsA) in the BMPR2 gene was identified as the cause of severe pulmonary arterial hypertension in an 11-year-old boy.
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