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KMID : 1100820180080030119
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Laboratory Medicine Online
2018 Volume.8 No. 3 p.119 ~ p.124
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Clinical Presentation with High Penetrance in a Korean Family with Pulmonary Arterial Hypertension Associated with a BMPR2 Intron 3 Splice Site Pathogenic Variant
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Kim Mi-Jeong
Lee Seung-Ok
Jekarl Dong-Wook
Chae Hyo-Jin
Kim Myung-Shin
Jung Hae-Ok
Jeon Doo-Soo
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Abstract
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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.
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KEYWORD
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Pulmonary hypertension, Bone morphogenetic protein receptor type 2, Pulmonary artery, Heritable pulmonary arterial hypertension
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