Evidence map›Paper›PMID 29403012›Full record

ArticleNature genetics2018

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.

Fabio L Fernandes-Rosa, Georgios Daniil, Ian J Orozco, Corinna Göppner, Rami El Zein, Vandana Jain, Sheerazed Boulkroun, Xavier Jeunemaitre, Laurence Amar, Hervé Lefebvre and 4 more

Open access · greenAbstract readLetter
PubMed Publisher
In one paragraph

Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
109citing papers in PubMed, 2 pooled it
18.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

109 citing papers in PubMed, 2 syntheses or guidelines pooled it, 207 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. [Nature medicine · 2023
    Trial
  4. Review
  5. Article
  6. Article
  7. Primary aldosteronism.Nature reviews. Disease primers · 2026
    Review
  8. Article
  9. Article
  10. Review
  11. The genetics of hypertension.Nature reviews. Nephrology · 2026
    Review
  12. Article
  13. Article
  14. Article
  15. Adrenal causes of endocrine hypertension in childhood or adolescence.Journal of endocrinological investigation · 2025
    Review
  16. Article
  17. Review
  18. Review
  19. Article
  20. Review

49 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors at 5 institutions in 3 countries.

Fabio L Fernandes-Rosa *INSERM, UMRS 970, Paris Cardiovascular Research Center, Paris, France. fabio.fernandes-rosa@inserm.fr.ORCID http://orcid.org/0000-0002-0162-0792
Georgios Daniil *INSERM, UMRS 970, Paris Cardiovascular Research Center, Paris, France.
Ian J Orozco *Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.
Corinna GöppnerLeibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.
Rami El ZeinINSERM, UMRS 970, Paris Cardiovascular Research Center, Paris, France.
Vandana JainDivision of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Sheerazed BoulkrounINSERM, UMRS 970, Paris Cardiovascular Research Center, Paris, France.
Xavier JeunemaitreINSERM, UMRS 970, Paris Cardiovascular Research Center, Paris, France.ORCID http://orcid.org/0000-0001-5925-381X
Laurence AmarINSERM, UMRS 970, Paris Cardiovascular Research Center, Paris, France.
Hervé LefebvreNormandie Université, UNIROUEN, Rouen, France.
Thomas SchwarzmayrInstitute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Tim M StromInstitute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Thomas J JentschLeibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany. jentsch@fmp-berlin.de.ORCID http://orcid.org/0000-0002-3509-2553
Maria-Christina ZennaroINSERM, UMRS 970, Paris Cardiovascular Research Center, Paris, France. maria-christina.zennaro@inserm.fr.ORCID http://orcid.org/0000-0001-5449-9191
Délégation Paris 5 · FRMax Delbrück Center · DEHelmholtz Zentrum München · DEAll India Institute of Medical Sciences · INInserm · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in the CLCN2 gene, encoding the voltage-gated ClC-2 chloride channel

Indexed as

Gain of Function MutationAdultAnimalsChildChloride ChannelsCLC-2 Chloride ChannelsCohort StudiesDNA Mutational AnalysisExome SequencingFemaleGerm-Line MutationHumansHyperaldosteronismMiceMice, KnockoutMiddle AgedChloride ChannelsCLC-2 Chloride ChannelsClcn2 protein, mouse

Identifiers

PMID29403012
OpenAlexW2789114977

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.