ArticleFrontiers in medicine2026
A novel compound heterozygous mutation in
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: Congenital aldosterone synthase deficiency (ASD), a subset of primary hypoaldosteronism caused by Methods: The clinical biochemical data and whole exome genetic data of a newborn ASD patient were analyzed. The pathogenicity of the novel mutations was predicted using the Result Prediction Software (REVEL). Three-dimensional structures of the mutated gene coded protein was calculated. Steroid hormone level was measured by mass spectrometry. Literatures of all related reports were collected using the HGMD database and Pubmed to analyze the similarity and difference of the novel mutations. Results: The male neonate, born at 26 Conclusion: Persistent hyponatremia necessitates thorough evaluation to rule out hypoaldosteronism, where genetic testing facilitates early definitive diagnosis. Long-term clinical follow-up remains critical for individualized treatment optimization. In this study, we reported the first identification of a novel
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