In the context of our findings it is of interest to note that UMOD mutations (in exons 4 and 5) are implicated in monogenic syndromes such as familial juvenile hyperuricemic nephropathy, autosomal-dominant medullary cystic kidney disease [MCKD2] and glomerulocystic kidney disease (GCKD) (MIM603860, MIM162000, MIM609886) [16]–[18]. Here, UMOD is linked to familial juvenile hyperuricemic nephropathy type 1.