A new fast molecular genetic diagnostic approach for pulmonary arterial hypertension
J Song, CA Eichstaedt, R Rodríguez Viales, N Benjamin, S Harutyunova, C Fischer, E Grünig, K Hinderhofer · Pneumologie · 2016 · Heft 07
Bibliografische Angaben
Zusammenfassung
Background: In this study we developed a new specific gene panel for pulmonary arterial hypertension (PAH) including major disease genes and further candidates. Methods: We assessed 37 patients with invasively confirmed PAH and 5 relatives of affected patients for genetic testing. A new PAH-specific gene panel was designed using next generation sequencing including 12 known disease genes and 17 further candidates. Any potential pathogenic variants were reassessed by Sanger sequencing. Results: Twenty-six of the 42 subjects (62%) had a mutation in BMPR2, ALK1, ENG or EIF2AK4 genes identified by panel and Sanger s…
