Individuals | Gender | Age | SUA(mg/dl) | FEUA(%) | Clinical symptoms | SLC22A12 mutations | State | |
---|---|---|---|---|---|---|---|---|
nucleotide | amino acid | |||||||
Patient | Female | 27y | 0.33 | 50 | – | c.269G > A/c.1289_1290insGG | p.R90H/p.M430fsX466 | compound heterozygote |
Father | Male | NA | 3.68 | NA | – | c.1289_1290insGG/WT | p.M430fsX466/WT | heterozygote |
mother | Female | NA | 4.35 | NA | – | c.269G > A/WT | p.R90H/WT | heterozygote |