Lab Med Online.  2018 Jul;8(3):119-124. 10.3343/lmo.2018.8.3.119.

Clinical Presentation with High Penetrance in a Korean Family with Pulmonary Arterial Hypertension Associated with a BMPR2 Intron 3 Splice Site Pathogenic Variant

Affiliations
  • 1Division of Cardiology, Department of Internal Medicine, Incheon St. Mary's Hospital, The Catholic University of Korea, Incheon, Korea.
  • 2Division of Cardiology, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
  • 3Department of Laboratory Medicine, Incheon St. Mary's Hospital, The Catholic University of Korea, Incheon, Korea. lsok@catholic.ac.kr
  • 4Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
  • 5Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.
  • 6Division of Cardiology, Department of Internal Medicine, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.

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.

Keyword

Pulmonary hypertension; Bone morphogenetic protein receptor type 2; Pulmonary artery; Heritable pulmonary arterial hypertension
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