KCNJ1 and Bartter syndrome: Results showed two pathogenic variants in the KCNJ1 gene [1]: a paternally inherited frameshift deletion, p.Glu334Glyfs*35 (c.996_999del, exon 5), predicted to result in premature protein termination and previously reported as causative for Bartter syndrome [6], and [2] a maternally inherited missense variant, p. Pro110Leu (c.329C > T, exon 5) (Fig. 2), previously reported to be pathogenic in compound heterozygosity with other pathogenic variants in KCNJ1 [8–10].