In the other family, a de novo heterozygous C-to-T transition (c.418C>T) in exon 4 of PAX2 that would result in a missense Arg140Trp mutation was identified in a 14.8 year old girl who presented with hyperuricemic gout, in association with renal disease and ophthalmic abnormalities consistent with RCS (Deng et al., 2019). Here, PAX2 is linked to gout.