Clinical Presentation with High Penetrance in a Korean Family with Pulmonary Arterial Hypertension Associated with a BMPR2 Intron 3 Splice Site Pathogenic Variant.
- Author:
Mi Jeong KIM
1
;
Seungok LEE
;
Dong Wook JEKARL
;
Hyojin CHAE
;
Myungshin KIM
;
Hae Ok JUNG
;
Doo Soo JEON
Author Information
- Publication Type:Case Report
- Keywords: Pulmonary hypertension; Bone morphogenetic protein receptor type 2; Pulmonary artery; Heritable pulmonary arterial hypertension
- MeSH: Familial Primary Pulmonary Hypertension; Genetic Association Studies; Humans; Hypertension*; Hypertension, Pulmonary; Introns*; Penetrance*; Precision Medicine; Pulmonary Artery
- From:Laboratory Medicine Online 2018;8(3):119-124
- CountryRepublic of Korea
- Language:English
- Abstract: Pathogenic variants of bone morphogenic protein receptor type 2 gene (BMPR2) are related to the majority of cases of heritable pulmonary arterial hypertension (PAH). Over 400 pathogenic variants have been identified. However, clinical characterization of PAH is still incomplete. We present a case of heritable PAH in a Korean family showing serious clinical presentation with high penetrance. Genetic sequencing revealed a known heterozygous BMPR2 pathogenic variant, c.418+5G>A, at a splice site of intron 3. Serious clinical presentation with high penetrance suggested that the interplay of other factors with pathologic variants might be in genotype-phenotype correlation. Further studies are needed to clarify these issues for the development of personalized medicine approaches for PAH.
