Fig. 1: Genetic alteration of NUMB gene in patients with inherent hyperuricemia and gout.

a The pedigree of family with inherent hyperuricemia and gout. The squares and the circles indicate males and females, respectively. The diagonal line indicates an individual who had died. Patients with both hyperuricemia and gout are indicated with black-filled shapes. The arrow indicates proband. b NUMB gene structure. The rectangles indicate exons and the lines indicate introns. The filled rectangles indicate CDS region. *Variant identified in the family with inherent hyperuricemia and gout. Representative electropherograms show that the c.1889 G > A NUMB variant (rs375597310) is found in a heterozygous state in the proband (red arrow head, lower plot), but not in the family member who does not have hyperuricemia or gout (red arrow head, upper plot). c NUMB rs375597310 and ABCG2 rs2231142 genotype of family members. d Distribution of the missense variant (R630H) identified in the family and NUMB protein ortholog alignments. The R630H variant is located at highly conserved residue across species. Red arrow head indicates R630H variant.