CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

ABSTRACT: Primary aldosteronism, a common cause of severe hypertension ¹ , features constitutive production of the adrenal steroid aldosterone. We analyzed a multiplex family with familial hyperaldosteronism type II (FH-II) ² and 80 additional probands with unsolved early-onset primary aldosteronism. Eight probands had novel heterozygous variants in CLCN2, including two de novo mutations and four independent occurrences of a mutation encoding an identical p.Arg172Gln substitution; all relatives with early-onset primary aldosteronism carried the CLCN2 variant found in the proband. CLCN2 encodes a voltage-gated chloride channel expressed in adrenal glomerulosa that opens at hyperpolarized membrane potentials. Channel opening depolarizes glomerulosa cells and induces expression of

SUBMITTER: Scholl UI 

PROVIDER: S-EPMC5862758 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature