Key result
Whole exome sequencing identifies a novel pathogenic CACNA1H mutation in early-onset primary aldosteronism.
Case Report (n=1)
No
The identification of the novel CACNA1H p.Tyr613Phe mutation expands the known genetic spectrum of familial hyperaldosteronism and underscores the utility of genetic sequencing in patients presenting with severe, early-onset secondary hypertension of unclear etiology.
Background: Primary aldosteronism (PA) is an endocrine disorder characterized by the autonomous, excessive production of aldosterone from the adrenal glands. Familial hyperaldosteronism (FH) is one type of PA. FH is further subclassified into types I through IV according to different gene mutations. Case presentation: This paper reports a case of unilateral adrenal hyperplasia with germline CACNA1H mutation, p.His515Tyr and p.Tyr613Phe, confirmed by endocrine test, whole exome sequencing and Sanger sequencing 4 years after onset. The variants located within N-terminal close to the first transmembrane domain of the protein that was highly conserved across different species. Polyphen2 and PROVEAN predicted p.Tyr613Phe to be probably damaging and deleterious. Conclusion: These findings broaden the genetic spectrum of PA and offer novel insights into the molecular mechanisms driving excessive aldosterone production. Therefore, genetic sequencing is recommended for PA patients whose etiology remains unclear after standard clinical evaluation.
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Yan et al. (2026) conducted a case report in Primary aldosteronism (n=1). CACNA1H p.Tyr613Phe mutation was evaluated on Identification of pathogenic variants associated with familial hyperaldosteronism. Whole exome sequencing identified a novel, likely pathogenic germline CACNA1H mutation (p.Tyr613Phe) in a 29-year-old male with primary aldosteronism.
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