However, the kindred did not have UMOD, REN, SEC61A1, or HNF-1β gene mutations, which collectively are associated with approximately 30-90% of FJHN cases, but instead had a missense mutation (p.Gly76Arg) of PAX2, whose abnormalities are more commonly associated with RCS. This evidence concerns the gene HNF1B and familial juvenile hyperuricemic nephropathy.