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

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

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

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 IVS9-2A4G) and one deletion (c.1279delG) mutation.

Original language	English
Article number	17010
Journal	Human Genome Variation
Volume	4
DOIs	https://doi.org/10.1038/hgv.2017.10
Publication status	Published - 2017
Externally published	Yes

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

Access to Document

10.1038/hgv.2017.10

Cite this

@article{b5fefa129a3d4d38b9271b7c52c42470,

title = "Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension",

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 IVS9-2A4G) and one deletion (c.1279delG) mutation.",

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

note = "Publisher Copyright: {\textcopyright} The Author(s) 2017.",

year = "2017",

doi = "10.1038/hgv.2017.10",

language = "English",

volume = "4",

journal = "Human Genome Variation",

issn = "2054-345X",

publisher = "Nature Publishing Group",

}

TY - JOUR

T1 - Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension

AU - Hara, Hironori

AU - Takeda, Norifumi

AU - Morita, Hiroyuki

AU - Hatano, Masaru

AU - Amiya, Eisuke

AU - Maki, Hisataka

AU - Minatsuki, Shun

AU - Taki, Mizuri

AU - Shiraishi, Yasuyuki

AU - Fujiwara, Takayuki

AU - Maemura, Sonoko

AU - Komuro, Issei

PY - 2017

Y1 - 2017

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85050619447&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85050619447&partnerID=8YFLogxK

U2 - 10.1038/hgv.2017.10

DO - 10.1038/hgv.2017.10

M3 - Article

AN - SCOPUS:85050619447

SN - 2054-345X

VL - 4

JO - Human Genome Variation

JF - Human Genome Variation

M1 - 17010

ER -

Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this