title: Mutational screening in genes related with porto-pulmonary hypertension: An analysis of 6 cases.
abstract: BACKGROUND
  Portopulmonary hypertension (PPH) is a rare disease with a low incidence and without a clearly-identified genetic component. The aim of this work was to check genes and genetic modifiers related to pulmonary arterial hypertension in patients with PPH in order to clarify the molecular basis of the pathology.
  
  
  METHODS
  We selected a total of 6 patients with PPH and amplified the exonic regions and intronic flanking regions of the relevant genes and regions of interest of the genetic modifiers.
  
  
  RESULTS
  Six patients diagnosed with PPH were analyzed and compared to 55 healthy individuals. Potentially-pathogenic mutations were identified in the analyzed genes of 5 patients. None of these mutations, which are highly conserved throughout evolution, were detected in the control patients nor different databases analyzed (1000 Genomes, ExAC and DECIPHER). After analyzing for genetic modifiers, we found different variations that could favor the onset of the disease.
  
  
  CONCLUSIONS
  The genetic analysis carried out in this small cohort of patients with PPH revealed a large number of mutations, with the ENG gene showing the greatest mutational frequency.
authors.affiliation: Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Pontevedra, España; Instituto de Investigación Sanitaria Galicia Sur (IIS-Galicia Sur), Pontevedra, España; Centro de Investigaciones Biomédicas (CINBIO), Pontevedra, España.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Pousada
authors.affiliation: Servicio de Neumología, Complexo Hospitalario Universitario de Pontevedra, Pontevedra, España.
authors.forename: Adolfo
authors.initials: A
authors.lastname: Baloira
authors.affiliation: Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Pontevedra, España; Instituto de Investigación Sanitaria Galicia Sur (IIS-Galicia Sur), Pontevedra, España. Electronic address: dianaval@uvigo.es.
authors.forename: Diana
authors.initials: D
authors.lastname: Valverde
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D006975:Hypertension, Portal / Q000150:complications / Q000235:genetics*; D006976:Hypertension, Pulmonary / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: D005819:Genetic Markers
keywords: Estudio genético; Genetic analysis; Genetic modifiers; Hipertensión arterial pulmonar; Hipertensión portopulmonar; Modificadores genéticos; Mutaciones; Mutations; Porto-pulmonary hypertension; Pulmonary arterial hypertension