Metadata
- Name
- CLCN2 Chloride Channel Mutations in Familial Hyperaldosteronism Type II
- Repository
- Gene Expression Omnibus
- Identifier
- geo.series:GSE107030
- Description
- Primary aldosteronism (PA), a common cause of severe hypertension, features constitutive production of the adrenal steroid aldosterone. We analyzed a multiplex family with familial hyperaldosteronism type II (FH-II) and 80 additional probands with unsolved early-onset PA. Eight probands had novel heterozygous variants in CLCN2, including two de novo mutations and four independent occurrences of the identical p.Arg172Gln mutation; all relatives with early-onset PA carried the CLCN2 variant found in probands. CLCN2 encodes a voltage-gated chloride channel expressed in adrenal glomerulosa that opens at hyperpolarized membrane potentials. In this data set, we examined RNA expression in H295R cells transfected with empty vector, WT and p.Arg172Gln CLCN2. Expression of CLCN2 led to increased expression of CYP11B2 and its upstream regulator NR4A2.
- Data or Study Types
- Expression profiling by high throughput sequencing
- Source Organization
- National Center for Biotechnology Information
- Access Conditions
- available
- Year
- 2017
- Access Hyperlink
- http://www.ncbi.nlm.nih.gov/sites/GDSbrowser?acc=GSE107030
Distributions
- Encoding Format: Bioproject ; URL: https://www.ncbi.nlm.nih.gov/bioproject/PRJNA418853
- Encoding Format: TXT ; URL: ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE1nnn/GSE107030/matrix/
- Encoding Format: MINiML ; URL: ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE1nnn/GSE107030/miniml/
- Encoding Format: SOFT ; URL: ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE1nnn/GSE107030/soft/