Recurrent CACNA1H E282K is a gain-of-function mutation associated with primary hyperaldosteronism
Authors' conclusion
Our study suggests that Cav3.2E282K is a gain-of-function mutation and T-type calcium channel blockers may be efficient in controlling aldosterone levels for PA patients carrying mutant Cav3.2.
Study context
- Population
- Patients with primary aldosteronism (PA)
- Participants
- 305 patients
- Outcome
- Germline CACNA1H variants and their function
Methodological detailstargeted next-generation sequencing of 10 PA causative genes, in vitro functional analysis
- Targeted next-generation sequencing of 10 PA causative genes
- In vitro functional analysis
Main finding
As reported in the abstract
Heterozygous germline CACNA1H variants (E282K, V213M, S1249R) in independent PA cases
3 variants in 4 cases
Recurrent E282K in 1 patient with severe early-onset PA and 1 with bilateral adrenal hyperplasia
2 patients
Original publication
Recurrent CACNA1H E282K is a gain-of-function mutation associated with primary hyperaldosteronism. Eur J Endocrinol. Published 16 December 2025. doi:10.
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