BMPR2 germline mutation in chronic thromboembolic pulmonary hypertension.
Lung
; 192(4): 625-7, 2014 Aug.
Article
en En
| MEDLINE
| ID: mdl-24728306
ABSTRACT
INTRODUCTION:
Heterozygous germline mutations of the bone morphogenetic protein type II receptor (BMPR2) gene BMPR2 are the most important predisposing factors for heritable pulmonary arterial hypertension. BMPR2 mutation was occasionally reported in pulmonary veno-occlusive disease, appetite suppressant-related pulmonary arterial hypertension (PAH), and PAH with congenital heart disease. MATERIALS ANDMETHODS:
In this study we identified a missense mutation (c.2296A > G) located in BMPR2 exon 12 in a patient with chronic thromboembolic pulmonary hypertension (CTEPH).CONCLUSION:
It is the first report of a BMPR2 mutation in CTEPH. Our study provides innovative insight into etiology of CTEPH. The genetic predisposing factor is an important component in the process of this CTEPH patient.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Embolia Pulmonar
/
Mutación de Línea Germinal
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Mutación Missense
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Receptores de Proteínas Morfogenéticas Óseas de Tipo II
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Hipertensión Pulmonar
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Lung
Año:
2014
Tipo del documento:
Article
País de afiliación:
China