Premium
The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension
Author(s) -
Hayes Don,
Ramanathan Chandar,
Kopp Benjamin T.
Publication year - 2014
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.22716
Subject(s) - missense mutation , medicine , pulmonologists , bmpr2 , mutation , pulmonary hypertension , bone morphogenetic protein , cardiology , genetics , intensive care medicine , gene , biology
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. Pediatr Pulmonol. 2014; 49:E5–E6. © 2013 Wiley Periodicals, Inc.