Case Report: Pulmonary arterial hypertension in children caused by a new mutation in the BMPR2 gene

TL;DR

A new mutation in the BMPR2 gene was found to cause pulmonary arterial hypertension in a child without a family history of the disease.

Contribution

The discovery of a novel combined point and deletion insertion mutation in the BMPR2 gene expands the genetic understanding of PAH.

Findings

A novel mutation in the BMPR2 gene was identified in an 11-year-old PAH patient.

The mutation includes a point mutation and a deletion insertion (c.621+2T>C/c.621+5_621+11delinsA).

This finding aids in early detection and personalized treatment for PAH.

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.

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