Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter
URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is
unknown. We studied two families who had severe hereditary hypouricemia and did not
have a URAT1 defect. We performed a genome-wide homozygosity screen and linkage
analysis and identified the candidate gene SLC2A9, which encodes the glucose transporter
9 (GLUT9). Both families had homozygous SLC2A9 mutations: A missense mutation (L75R) …