Father–Daughter Autosomal Recessive Gitelman Syndrome Caused by Compound Heterozygous Variants in the SLC12A3 Gene

ABSTRACT

Gitelman syndrome (GS) is a rare autosomal recessive tubular disorder of the kidney caused by pathogenic variants in the SLC12A3 gene. Familial cases with affected individuals across successive generations are often misclassified as autosomal dominant inheritance. We report a Chinese father and daughter carrying truncating pathogenic variants of the SLC12A3 gene with divergent clinical manifestations. These molecular findings confirmed autosomal recessive inheritance and corrected the initial presumptive diagnosis of autosomal dominant disease.