title: [Study of the BMPR2 gene in patients with pulmonary arterial hypertension].
abstract: BACKGROUND
  Mutations of the gene that code bone morphogenic protein type 2 receptor (BMPR2) are involved in the pathogenesis of pulmonary arterial hypertension (PAH), both in its familial (FPAH) and its idiopathic (IPAH) forms.
  
  
  METHODS
  With the aim of increasing the knowledge of these genetic factors in our area, the BMPR2 gene was studied in 17 patients with PAH, 8 with FPAH and 9 with sporadic IPAH. Additionally, a study was made to see whether the presence of BMPR2 mutations was associated with changes in the CO diffusing CO (DL(CO)) with the aim of evaluating the interest in this measurement in the pre-clinical diagnosis.
  
  
  RESULTS
  R491Q y R211X mutations were detected in 2 patients with FPAH (prevalence, 25%), and the R332X mutation in one case of IPAH (prevalence, 11%). The familial study of the patient with the R491Q mutation, 14 of the 28 subjects studied had the mutation, and 4 had the diseases (penetration, 36%). A decrease in the DL(CO)/alveolar volume (K(CO)) ratio was observed in asymptomatic family members who expressed the mutation, compared to those who did not express it (88+/-5% and 104+/-9% of the reference value, respectively; P<0.01).
  
  
  CONCLUSIONS
  We conclude that the frequency of mutations in the BMPR2 gene in the patients studied with FPAH is lower than was previously described. The decrease in the K(CO) observed in asymptomatic carriers of the mutation suggests a certain level of pulmonary vascular changes, therefore its measurement could be useful in the familial study of FPAH.
authors.affiliation: Servicio de Neumología, Hospital Clínic, Barcelona, España.
authors.forename: Karina
authors.initials: K
authors.lastname: Portillo
authors.forename: Salud
authors.initials: S
authors.lastname: Santos
authors.forename: Irene
authors.initials: I
authors.lastname: Madrigal
authors.forename: Isabel
authors.initials: I
authors.lastname: Blanco
authors.forename: Carles
authors.initials: C
authors.lastname: Paré
authors.forename: Luis
authors.initials: L
authors.lastname: Borderías
authors.forename: Victor I
authors.initials: VI
authors.lastname: Peinado
authors.forename: Josep
authors.initials: J
authors.lastname: Roca
authors.forename: Monserrat
authors.initials: M
authors.lastname: Milà
authors.forename: Joan Albert
authors.initials: JA
authors.lastname: Barberà
mesh_terms: D000293:Adolescent; D000328:Adult; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics; D055815:Young Adult
chemical_list: C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II