Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension.
Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension.
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DOI：
10.1038/hgv.2017.10
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发表时间：
2017
影响因子：
1.5
通讯作者：
Komuro I
中科院分区：
文献类型：
--
作者：
Hara H;Takeda N;Morita H;Hatano M;Amiya E;Maki H;Minatsuki S;Taki M;Shiraishi Y;Fujiwara T;Maemura S;Komuro I
骨形态发生蛋白受体2型（BMPR2）基因的突变可能导致肺动脉高压（PAH）的发生。然而，致病突变对疾病特征以及对近期治疗的反应性的影响仍有待阐明。我们报告了3例具有新型BMPR2突变的日本晚期PAH病例，包括2种剪接突变（IVS8 - 6_7delTTinsA和IVS9 - 2A>G）以及1种缺失（c.1279delG）突变。
Mutations in the bone morphogenetic protein receptor type II (BMPR2) gene may result in the development of pulmonary arterial hypertension (PAH). However, the contribution of disease-causing mutations to the disease characteristics and responsiveness to recent treatment remains to be elucidated. We report three Japanese cases of advanced PAH with novel BMPR2 mutations, including two splicing mutations (IVS8-6_7delTTinsA and IVS9-2A>G) and one deletion (c.1279delG) mutation.