Research Article

Whole-Exome Sequencing Reveals a Rare Missense Variant in SLC16A9 in a Pedigree with Early-Onset Gout

Table 1

Summary of clinical observations of the participants in this study.

IDGenderAge (y)SUAHUASCrBUNFEUaUPHOnset age (y)ArthritisTophiTGTCObesityHBPHGObesity

II:1F63257516.86.5+
II:4M48581+694.23.776.025++++++
II:5F46305446.05.5+++
III:1M45321505.36.0
III:2M25517+715.14.635.020+

SUA, serum uric acid, μmol/l; HUA, hyperuricemia; SCr, serum creatine, μmol/l; BUN, blood urea nitrogen, mmol/l; FEUa, fractional excretion of uric acid,%; (hyperuricemia: male > 420 μmol/l; female > 360 μmol/l); UPH, urine PH; TG, triglyceride; TC, total cholesterol; HBP, high blood pressure; HG, hyperglycemia.