Genetic testing of eight genes associated with hyperuricaemia (UMOD, HPRT1, PRPS1, MTHFR, REN, HNF1b, URAT1 and G6PC) revealed that the 3 affected members carried a novel heterozygous missense variant (c.674C > G, p.T225R) in the UMOD gene (Fig. 3). Here, UMOD is linked to hyperuricemia.