KCNK3: new gene target for pulmonary hypertension?. (August 2014)

• Record Type: Journal Article
• Authors: Girerd, Barbara; Perros, Frédéric; Antigny, Fabrice; Humbert, Marc; Montani, David
• Is Part Of: Expert review of respiratory medicine. Volume 8:Number 4(2014)
• Page Start: 385
• Page End: 387
• Publication Date: 2014-08
• Subjects: Respiratory organs -- Diseases -- Periodicals; Respiratory organs -- Diseases -- Treatment -- Periodicals; 616.2005
• DOI: 10.1586/17476348.2014.909731
• Languages: English
• ISSNs: 1747-6348

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p>Recently, <italic>KCNK3</italic> has been identified as a new predisposing gene for pulmonary arterial hypertension (PAH) by whole-exome sequencing. Mutation in <italic>KCNK3</italic> gene is responsible for the first channelopathy identified in PAH. PAH due to <italic>KCNK3</italic> mutations is an autosomal dominant disease with an incomplete penetrance as previously described in PAH due to <italic>BMPR2</italic> mutations. This discovery represents an important advance for genetic counselling, allowing identification of high risk relatives for PAH and possible screening for PAH in <italic>KCNK3</italic> mutation carriers.</p> </abstract>