One family, which had a PAX2 frameshift mutation [c.567_568dup (p. Ile190ArgfsX85)] in exon 5, consisted of five affected males from three generations; all the five affected males suffered from hyperuricemia and/or gout and the proband also suffered from diabetes mellitus and cryptorchidism, which have not previously been associated with RCS (Megaw et al., 2013). This evidence concerns the gene PAX2 and hyperuricemia.