Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension

被引：7
|
作者：
Hara H. [1 ]
Takeda N. [1 ]
Morita H. [1 ]
Hatano M. [1 ,2 ]
Amiya E. [1 ]
Maki H. [1 ]
Minatsuki S. [1 ]
Taki M. [1 ,3 ]
Shiraishi Y. [1 ,4 ]
Fujiwara T. [1 ]
Maemura S. [1 ]
Komuro I. [1 ]
机构：
[1] Department of Cardiovascular Medicine, University of Tokyo Hospital, Tokyo
[2] Department of Therapeutic Strategy for Heart Failure, University of Tokyo Hospital, Tokyo
[3] Division of Cardiovascular Medicine, Department of Medicine, Jichi Medical University School of Medicine, Tochigi
[4] Department of Cardiology, Keio University of School of Medicine, Tokyo
来源：
Human Genome Variation | / 4卷 / 1期
基金：
日本学术振兴会;
关键词：
D O I：
10.1038/hgv.2017.10
中图分类号：
学科分类号：
摘要：
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 IVS9-2A4G) and one deletion (c.1279delG) mutation. © The Author(s) 2017.
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