BMPR2 Germline Mutation in Chronic Thromboembolic Pulmonary Hypertension
BMPR2 Germline Mutation in Chronic Thromboembolic Pulmonary Hypertension
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DOI：
10.1007/s00408-014-9580-y
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发表时间：
2014-08-01
期刊：
影响因子：
5
通讯作者：
Jing, Zhi-Cheng
中科院分区：
文献类型：
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作者：
Feng, Yu-Xuan;Liu, Dong;Jing, Zhi-Cheng
骨形态发生蛋白II型受体（BMPR2）基因的杂合生殖系突变是遗传性肺动脉高压最重要的易感因素。BMPR2突变在肺静脉阻塞性疾病、食欲抑制剂相关的肺动脉高压（PAH）和PAH合并先天性心脏病中偶见报道，本研究在一例慢性血栓栓塞性肺动脉高压（CTEPH）患者中发现了BMPR2第12外显子的错义突变（c.2296A > G），这是首次报道CTEPH中BMPR2突变。我们的研究为CTEPH的病因学提供了创新的见解。遗传易感因素是该CTEPH患者过程中的重要组成部分。
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.