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. The gene discussed is SEC61A1; the disease is familial juvenile hyperuricemic nephropathy.