Article
Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.
Respiratory research - 27 Mar 2022
Eichstaedt Christina A, Saßmannshausen Zoe, Shaukat Memoona, Cao Ding, Xanthouli Panagiota, Gall Henning, Sommer Natascha, Ghofrani Hossein-Ardeschir, Seyfarth Hans-Jürgen, Lerche Marianne, Halank Michael, Kleymann Janina, Benjamin Nicola, Harutyunova Satenik, Egenlauf Benjamin, Milger Katrin, Rosenkranz Stephan, Ewert Ralf, Klose Hans, Hoeper Marius M, Olsson Karen M, Lankeit Mareike, Lange Tobias J, Hinderhofer Katrin, Grünig Ekkehard
Abstract excerpt
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...
Topics
- Activin Receptors, Type II
- Adenosine Triphosphatases
- Familial Primary Pulmonary Hypertension
- Genetic Predisposition to Disease
- Humans
- Hypertension, Pulmonary
- Membrane Transport Proteins