CLCN2 chloride channel mutations in familial hyperaldosteronism type II

Research output: Contribution to journalJournal articleResearchpeer-review

  • Ute I Scholl
  • Gabriel Stölting
  • Julia Schewe
  • Anne Thiel
  • Hua Tan
  • Carol Nelson-Williams
  • Alfred A Vichot
  • Sheng Chih Jin
  • Erin Loring
  • Taekyeong Yoo
  • Jungmin Choi
  • Shengxin Xu
  • Aihua Wu
  • Marieluise Kirchner
  • Philipp Mertins
  • Lars C Rump
  • Ali Mirza Onder
  • Cory Gamble
  • Daniel McKenney
  • Robert W Lash
  • Deborah P Jones
  • Gary Chune
  • Priscila Gagliardi
  • Murim Choi
  • Richard Gordon
  • Michael Stowasser
  • Christoph Fahlke
  • Richard P Lifton

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 aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis. Mutant channels show gain of function, with higher open probabilities at the glomerulosa resting potential. These findings for the first time demonstrate a role of anion channels in glomerulosa membrane potential determination, aldosterone production and hypertension. They establish the cause of a substantial fraction of early-onset primary aldosteronism.

Original languageEnglish
JournalNature Genetics
Volume50
Issue number3
Pages (from-to)349-354
Number of pages6
ISSN1061-4036
DOIs
Publication statusPublished - 2018
Externally publishedYes

ID: 209898480