SLC12A1 and Bartter syndrome: We identified two likely pathogenic nonsense variants in compound heterozygous state (p.[(Gln75*)];[Arg761*]) in the SLC12A1 gene (Na-K-2Cl cotransporter NKCC2, pathogenic mutations cause type I BS (OMIM #601678)) confirming a clinical diagnosed of neonatal Bartter syndrome type 1.