OCRL and Dent disease: Sanger’s DNA sequencing showed this boy carried a hemizygous deletion of exon 3 and 4 in OCRL1 gene [NM_000276.4; c.120-238delG...A], and the deletion led to a nonsense mutation and premature termination at nucleotide 171 in exon 5 of the mutant OCRL1 gene [p.E57*] (pathogenic, Dent disease 2, X-linked recessive) (Fig. 1B).