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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.
Financial & competing interests disclosure
FP has a relationship with Bayer. He received an Investigator Sponsored Study (ISS) grant. MH has relationships with drug companies including Actelion, Aires, Bayer, GSK, Novartis, and Pfizer. In addition to being an investigator in trials involving these companies, relationships include consultancy service and membership of scientific advisory boards. DM has relationships with drug companies including Actelion, Bayer, GSK, Novartis, and Pfizer. In addition to being an investigator in trials involving these companies, relationships include consultancy service and membership of scientific advisory boards. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending or royalties.
No writing assistance was utilized in the production of this manuscript.