A mutation in a gene that is regulated by aldosterone. Linkage analysis on patients with the severe form of PHA excluded the possibility of linkage of the disease with the mineralocorticoid receptor gene region.
A genetic change in a gene influenced by aldosterone was identified. Research on individuals suffering from the severe type of PHA eliminated the likelihood of a genetic connection to the mineralocorticoid receptor gene region, which is involved in regulating electrolyte balance.