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Titel:

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

Dokumenttyp:
Article; Letter; Research Support, Non-U.S. Gov't
Autor(en):
Fernandes-Rosa, Fabio L; Daniil, Georgios; Orozco, Ian J; Göppner, Corinna; El Zein, Rami; Jain, Vandana; Boulkroun, Sheerazed; Jeunemaitre, Xavier; Amar, Laurence; Lefebvre, Hervé; Schwarzmayr, Thomas; Strom, Tim M; Jentsch, Thomas J; Zennaro, Maria-Christina
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 1 , in a patient diagnosed at 9 years of age. Patch-clamp analysis of glomerulosa cells of mouse adrenal gland slices showed hyperpolarization-activated Cl- currents that were abolishe...     »
Zeitschriftentitel:
Nat Genet
Jahr:
2018
Band / Volume:
50
Heft / Issue:
3
Seitenangaben Beitrag:
355-361
Volltext / DOI:
doi:10.1038/s41588-018-0053-8
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/29403012
Print-ISSN:
1061-4036
TUM Einrichtung:
Institut für Humangenetik
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