title: BMPR2 germline mutation in chronic thromboembolic pulmonary hypertension.
abstract: BACKGROUND
  Heterozygous germline mutations of the bone morphogenetic protein type II receptor (BMPR2) gene BMPR2 are the most important predisposing factors for heritable pulmonary arterial hypertension. BMPR2 mutation was occasionally reported in pulmonary veno-occlusive disease, appetite suppressant-related pulmonary arterial hypertension (PAH), and PAH with congenital heart disease.
  
  
  METHODS
  In this study we identified a missense mutation (c.2296A > G) located in BMPR2 exon 12 in a patient with chronic thromboembolic pulmonary hypertension (CTEPH).
  
  
  CONCLUSIONS
  It is the first report of a BMPR2 mutation in CTEPH. Our study provides innovative insight into etiology of CTEPH. The genetic predisposing factor is an important component in the process of this CTEPH patient.
authors.affiliation: Department of Respiratory Medicine, The First Affiliated Hospital, Henan University of Science and Technology, Luoyang, China.
authors.forename: Yu-Xuan
authors.initials: YX
authors.lastname: Feng
authors.forename: Dong
authors.initials: D
authors.lastname: Liu
authors.forename: Ming-Li
authors.initials: ML
authors.lastname: Sun
authors.forename: Xin
authors.initials: X
authors.lastname: Jiang
authors.forename: Na
authors.initials: N
authors.lastname: Sun
authors.forename: Yi-Min
authors.initials: YM
authors.lastname: Mao
authors.forename: Zhi-Cheng
authors.initials: ZC
authors.lastname: Jing
mesh_terms: D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D000959:Antihypertensive Agents / Q000627:therapeutic use; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics*; D002908:Chronic Disease; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D020125:Mutation, Missense; D010641:Phenotype; D011655:Pulmonary Embolism / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D000925:Anticoagulants; D000959:Antihypertensive Agents; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II
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