DNA sequencing showed a deletion of G at nuleotide 1444 in exon 11 of the CLCN5 gene [NM_001127899; c.1444delG] and the deletion led to a downstream ochre codon (TAA) mutation at nuleotide 1509 in exon 11 [p.L503*] (pathogenic, Dent disease 1, X-linked recessive) in this child (Fig. 1A). Here, CLCN5 is linked to Dent disease.