A new mutation in the BMPR2 gene has been identified that could be linked to the development of pulmonary arterial hypertension (PAH), as published in the Journal of Clinical Laboratory Analysis.

“In addition to general examinations, clinicians must thoroughly examine molecular genetics to provide an accurate diagnosis in the clinic, particularly for rare disorders,” Xiao Xu and the coauthors of the study wrote.

PAH is a rare disease, the etiology of which is not completely clear. In some cases, the disease can be induced by drugs or toxins, and in others, it can be associated with other diseases or be inherited. The most common cause of heritable PAH is a mutation in the BMPR2 gene.

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The BMPR2 encodes a cell-surface receptor protein that belongs to the superfamily of receptors for the TGF-beta family of ligands. This receptor/ligand complex is involved in embryogenesis, apoptosis, and cell proliferation. It is not fully understood how mutations in BMPR2 lead to PAH.

Read more about PAH etiology

In the present study, the researchers reported the case of a woman aged 52 years who had a cough lasting 2 months and was diagnosed with PAH following a medical examination, chest radiography, electrocardiography, echocardiography, and genetic testing.

The genetic mutation that was identified was novel and consisted of a heterozygous 1481C>T (p.Ala494Val) in the BMPR2 gene. So far, almost 300 different mutations have been identified in the BMPR2 gene that is linked to PAH.

The new mutations reported here had already been identified as a potential pathogenic variant through bioinformatics analysis. Now, more research is needed to verify the underlying mechanism of how this mutation may be linked to PAH.

European guidelines recommend patients with heritable and idiopathic PAH receive genetic screening for mutations in the BMPR2 gene as well as genetic counseling so that their relatives can also be tested to predict their likelihood of also developing the disease. This way, preventative care can be adopted early to reduce the risk of complications.


Xu X, Wang X, Yang GC, Liu Q. Identification of a novel mutation in the BMPR2 gene in a pulmonary arterial hypertension patient using next-generation sequencing. J Clin Lab Anal. Published online December 24, 2021. doi:10.1002/jcla.24183