Germline mutations in the chloride channel gene CLCN2 have been described as cause of familial hyperaldosteronism type II. In this issue, Dutta and colleagues in a groundbreaking study identify a somatic (tumor-specific) CLCN2 mutation in an aldosterone-producing adenoma, expanding the disease spectrum associated with CLCN2 mutations.
Familial Hyperaldosteronism Type II: Description of a Large Kindred and Exclusion of the Aldosterone Synthase (CYP11B2) Gene1