Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension

Hironori Hara; Norifumi Takeda; Hiroyuki Morita; Masaru Hatano; Eisuke Amiya; Hisataka Maki; Shun Minatsuki; Mizuri Taki; Yasuyuki Shiraishi; Takayuki Fujiwara; Sonoko Maemura; Issei Komuro

doi:10.1038/hgv.2017.10

Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension

Hum Genome Var. 2017 Apr 20:4:17010. doi: 10.1038/hgv.2017.10. eCollection 2017.

Authors

Hironori Hara¹, Norifumi Takeda¹, Hiroyuki Morita¹, Masaru Hatano^{1

2}, Eisuke Amiya¹, Hisataka Maki¹, Shun Minatsuki¹, Mizuri Taki^{1

3}, Yasuyuki Shiraishi^{1

4}, Takayuki Fujiwara¹, Sonoko Maemura¹, Issei Komuro¹

Affiliations

¹ Department of Cardiovascular Medicine, The University of Tokyo Hospital, Tokyo, Japan.
² Department of Therapeutic Strategy for Heart Failure, The University of Tokyo Hospital, Tokyo, Japan.
³ Division of Cardiovascular Medicine, Department of Medicine, Jichi Medical University School of Medicine, Tochigi, Japan.
⁴ Department of Cardiology, Keio University of School of Medicine, Tokyo, Japan.

Abstract

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.