In ensuring the specificity of the findings, we meticulously examined other significant genes associated with Bartter syndrome, including SLC12A1, KCNJ1, CLCNKB, CLCNKA, and BSND. Through the whole exome sequencing approach, we effectively ruled out the presence of disease-causing variants in these genes, consolidating the likelihood of the pathogenic role of the novel splice variant identified in the MAGED2 gene. This evidence concerns the gene SLC12A1 and Bartter syndrome.