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

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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 languageEnglish
Article number17010
JournalHuman Genome Variation
Volume4
DOIs
Publication statusPublished - 2017 Jan 1

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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  • Cite this

    Hara, H., Takeda, N., Morita, H., Hatano, M., Amiya, E., Maki, H., Minatsuki, S., Taki, M., Shiraishi, Y., Fujiwara, T., Maemura, S., & Komuro, I. (2017). Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension. Human Genome Variation, 4, [17010]. https://doi.org/10.1038/hgv.2017.10