title: KCNK3: new gene target for pulmonary hypertension?
abstract: Recently, KCNK3 has been identified as a new predisposing gene for pulmonary arterial hypertension (PAH) by whole-exome sequencing. Mutation in KCNK3 gene is responsible for the first channelopathy identified in PAH. PAH due to KCNK3 mutations is an autosomal dominant disease with an incomplete penetrance as previously described in PAH due to BMPR2 mutations. This discovery represents an important advance for genetic counselling, allowing identification of high risk relatives for PAH and possible screening for PAH in KCNK3 mutation carriers.
authors.affiliation: Université Paris-Sud, Le Kremlin-Bicêtre, France.
authors.forename: Barbara
authors.initials: B
authors.lastname: Girerd
authors.forename: Frédéric
authors.initials: F
authors.lastname: Perros
authors.forename: Fabrice
authors.initials: F
authors.lastname: Antigny
authors.forename: Marc
authors.initials: M
authors.lastname: Humbert
authors.forename: David
authors.initials: D
authors.lastname: Montani
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D024683:Potassium Channels, Tandem Pore Domain / Q000235:genetics*
chemical_list: D009419:Nerve Tissue Proteins; D024683:Potassium Channels, Tandem Pore Domain; C420132:potassium channel subfamily K member 3
keywords: KCNK3 gene; TASK1; ion channel; pulmonary arterial hypertension; respiratory