Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension.
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ABSTRACT:
SUBMITTER: Hara H
PROVIDER: S-EPMC5397398 | biostudies-other | 2017
REPOSITORIES: biostudies-other
Publications
Three novel <i>BMPR2</i> mutations associated with advanced pulmonary arterial hypertension.
Hara Hironori H Takeda Norifumi N Morita Hiroyuki H Hatano Masaru M Amiya Eisuke E Maki Hisataka H Minatsuki Shun S Taki Mizuri M Shiraishi Yasuyuki Y Fujiwara Takayuki T Maemura Sonoko S Komuro Issei I
Human genome variation 20170420
Mutations in the bone morphogenetic protein receptor type II (<i>BMPR2</i>) 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 <i>BMPR2</i> mutations, including two splicing mutations (IVS8-6_7delTTinsA and IVS9-2A>G) and one deletion (c.1279delG) mutation. ...[more]
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