title: A case of renal hypouricemia caused by urate transporter 1 gene mutations.
abstract: Hypouricemia is a common disorder in the general population. Herein, renal hypouricemia caused by human urate transporter 1 (hURAT1) gene mutations in a Japanese patient with intellectual disability is reported. She had compound heterozygous mutations in this gene (W258X and IVS2+1G>A), nevertheless, she showed no clinical manifestations such as urolithiasis and exercise-induced acute renal failure. Restriction enzyme analysis with HphI was useful to screen the IVS2+1G>A mutation in hURAT1 gene.
authors.affiliation: Department of Clinical Research, Saigata National Hospital, Niigata, Japan. tinazu@saigata-nh.go.jp
authors.forename: T
authors.initials: T
authors.lastname: Inazu
mesh_terms: D000328:Adult; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007674:Kidney Diseases / Q000097:blood* / Q000235:genetics*; D009154:Mutation; D027361:Organic Anion Transporters / Q000235:genetics*; D027701:Organic Cation Transport Proteins; D014527:Uric Acid / Q000097:blood*
chemical_list: D002352:Carrier Proteins; D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human; D014527:Uric Acid; D004247:DNA