Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium

Abstract

This study provides evidence that heterozygosity for a pathogenic variant in <i>SLC12A3</i> causing Gitelman syndrome, a canonically recessive disorder, contributes to serum potassium concentration. The findings provide insights into <i>SLC12A3</i> biology and the effects of heterozygosity on electrolyte homeostasis and related subclinical phenotypes that may have implications for personalized medicine and nutrition.