Homozygous mutations of GLUT9 cause severe renal hypouricemia

Dganit Dinour, Nicola K. Gray, Susan Campbell, Xinhua Shu, Lindsay Sawyer, William Richardson, Gideon Rechavi, Ninette Amariglio

Research output: Contribution to journalArticlepeer-review

Abstract

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).

Original languageEnglish
Pages (from-to)64-72
Number of pages9
JournalJournal of the American Society of Nephrology
Volume21
Issue number1
DOIs
Publication statusPublished - 1 Jan 2010

Keywords

  • genetics
  • renal hypouricemia
  • enal tubular uric acid transporter

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