18Jun 2023
A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene

A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene

This study investigates the genetic aetiology in a cohort of patients with a clinical, biochemical, and hormonal profile suggesting a mild and transient form of pseudohypoaldosteronism type 1 (PHA1). Functional studies showed that the p.Phe226Cys substitution mutation in ENaC leads to a partial loss of function, resulting mainly from decreased intrinsic ENaC activity and reduced channel expression at the protein level.

  • #family health

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