Clinical Presentation with High Penetrance in a Korean Family with Pulmonary Arterial Hypertension Associated with a BMPR2 Intron 3 Splice Site Pathogenic Variant
Laboratory Medicine Online
; : 119-124, 2018.
Article
en En
| WPRIM
| ID: wpr-715907
Biblioteca responsable:
WPRO
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.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Arteria Pulmonar
/
Intrones
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Penetrancia
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Medicina de Precisión
/
Estudios de Asociación Genética
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Hipertensión Pulmonar Primaria Familiar
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Hipertensión
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Hipertensión Pulmonar
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Laboratory Medicine Online
Año:
2018
Tipo del documento:
Article