Searchable abstracts of presentations at key conferences in endocrinology

ea0049gp15 | Adrenal 2 | ECE2017

Integrated genomic and phenomic analysis reveals key molecular pathways of aldosterone producing adenoma

Fernandes-Rosa Fabio , Boulkroun Sheerazed , Dzib Felipe Golib , Daniil Georgios , Amar Laurence , Rance Bastien , Samson-Couterie Benoit , Jeunemaitre Xavier , Meatchi Tchao , Benecke Arndt , Strom Tim , Zennaro Maria-Christina

Primary aldosteronism is the most common form of secondary hypertension. Somatic mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D have been described in 50% of aldosterone producing adenomas (APA). To identify genetic alterations in new genes, we performed whole exome sequencing in 23 patients with APA negative for recurrent mutations in known driver genes. A low number of somatic variations were identified per patient, ranging from 1 to 22. N...