Christina A Eichstaedt, Zoe Saßmannshausen, Memoona Shaukat, Ding Cao, Panagiota Xanthouli, Henning Gall, Natascha Sommer, Hossein-Ardeschir Ghofrani, Hans-Jürgen Seyfarth, Marianne Lerche, Michael Halank, Janina Kleymann, Nicola Benjamin, Satenik Harutyunova, Benjamin Egenlauf, Katrin Milger, Stephan Rosenkranz, Ralf Ewert, Hans Klose, Marius M Hoeper, Karen M Olsson, Mareike Lankeit, Tobias J Lange, Katrin Hinderhofer, Ekkehard Grünig
BACKGROUND: A genetic predisposition can lead to the rare disease pulmonary arterial hypertension (PAH). Most mutations have been identified in the gene BMPR2 in heritable PAH. However, as of today 15 further PAH genes have been described. The exact prevalence across these genes particularly in other PAH forms remains uncertain. We present the distribution of mutations across PAH genes identified at the largest German referral centre for genetic diagnostics in PAH over a course of > 3 years...
March 27, 2022: Respiratory Research