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). Here, PAX2 is linked to diabetes mellitus.