BMPR2 Germline Mutation in Chronic Thromboembolic Pulmonary Hypertension
- 13 April 2014
- journal article
- case report
- Published by Springer Science and Business Media LLC in Lung
- Vol. 192 (4), 625-627
- https://doi.org/10.1007/s00408-014-9580-y
Abstract
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. 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). 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.Keywords
This publication has 10 references indexed in Scilit:
- Role of BMPR2 Alternative Splicing in Heritable Pulmonary Arterial Hypertension PenetranceCirculation, 2012
- Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patientsEuropean Respiratory Journal, 2011
- Chronic Thromboembolic Pulmonary HypertensionCirculation, 2006
- Dysfunctional Smad Signaling Contributes to Abnormal Smooth Muscle Cell Proliferation in Familial Pulmonary Arterial HypertensionCirculation Research, 2005
- BMPR2 mutations in pulmonary arterial hypertension with congenital heart diseaseEuropean Respiratory Journal, 2004
- Incidence of Chronic Thromboembolic Pulmonary Hypertension after Pulmonary EmbolismNew England Journal of Medicine, 2004
- Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertensionHuman Molecular Genetics, 2003
- Pulmonary Veno-occlusive Disease Caused by an Inherited Mutation in Bone Morphogenetic Protein Receptor IIAmerican Journal of Respiratory and Critical Care Medicine, 2003
- BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivativesEuropean Respiratory Journal, 2002
- Longterm Follow-up of Patients with Pulmonary ThromboembolismChest, 1982