title: The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension.
abstract: We present a patient that is the index case of pulmonary arterial hypertension (PAH) in a child due to the bone morphogenetic protein type II (BMPR2) missense mutation p.K230N, also known as c.690A>T. Missense mutations typically have earlier onset and more severe disease in PAH, so pulmonologists should be aware of this in the evaluation of PAH in children.
authors.affiliation: Section of Pulmonary Medicine, Nationwide Children's Hospital and The Ohio State University, Department of Pediatrics, Columbus, Ohio.
authors.forename: Don
authors.initials: D
authors.lastname: Hayes
authors.forename: Chandar
authors.initials: C
authors.lastname: Ramanathan
authors.forename: Benjamin T
authors.initials: BT
authors.lastname: Kopp
mesh_terms: D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics*; D002648:Child; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense
chemical_list: C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II
keywords: BMPR2; c.690A>T; hereditary; p.K230N; pulmonary arterial hypertension