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Article

Pediatric pulmonary arterial hypertension due to a novel homozygous GDF2 missense variant affecting BMP9 processing and activity.

American journal of medical genetics. Part A - 1 Aug 2023

Chomette L, Hupkens E, Romitti M, Dewachter L, Vachiéry J L, Bailly S, Costagliola S, Smits G, Tillet E, Bondue Antoine

Abstract excerpt

Pulmonary arterial hypertension (PAH) is a rare and severe disorder characterized by progressive pulmonary vasculopathy. Growth differentiation factor (GDF)2 encodes the pro-protein bone morphogenetic protein (BMP) 9, activated after cleavage by endoproteases into an active mature form. BMP9, together with BMP10, are high-affinity ligands of activin receptor-like kinase 1 (ALK1) and BMP receptor type II (BMPR2)....

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PMID: 37249087
DOI: 10.1002/ajmg.a.63236

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