PMC8486506_01
Pedigree of the patient. Solid symbols denote family members with homozygous mutation; half-solid denote heterozygous mutation. "N" denotes family members with normal uric acid level; " " denotes severe hypouricemia. "?" denotes family members with no laboratory data. Circles represent female family members, squares represent male family members, and crosses represent dead family members. Double lines indicate consanguineous marriage. Arrow indicates the index patient.
CRIN2021-4751099.001.jpg
PMC8486506_01_CRIN2021-4751099.001.jpg
fig1
This index patient (V6) is a member of a highly consanguineous Pakistani family with cousin marriages over two successive generations (Figure 1).