Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension

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...

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Detalles Bibliográficos
Autores principales: Hara, Hironori, Takeda, Norifumi, Morita, Hiroyuki, Hatano, Masaru, Amiya, Eisuke, Maki, Hisataka, Minatsuki, Shun, Taki, Mizuri, Shiraishi, Yasuyuki, Fujiwara, Takayuki, Maemura, Sonoko, Komuro, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397398/
https://www.ncbi.nlm.nih.gov/pubmed/28480048
http://dx.doi.org/10.1038/hgv.2017.10
Descripción
Sumario: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.

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