title: Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature.
abstract: BACKGROUND
  Renal hypouricemia is an autosomal recessive disorder resulting from inactivating mutations in the urate transporter 1 (URAT1) encoded by SLC22A12. To date, 10 mutations have been identified and W258X in the URAT1 gene is the predominant cause in middle to southwestern Japan. However, it is still unclear whether there is a regional specific distribution of mutations in northern Japan. In this study, we analyzed mutations in the URAT1 gene of five Japanese patients with renal hypouricemia in northern Japan.
  
  
  METHODS
  Peripheral blood mononuclear cells were isolated from patients with hypouricemia and healthy control subjects. A mutation analysis of the URAT1 gene was performed completely by direct automated sequencing of polymerase chain reaction-amplified DNA products.
  
  
  RESULTS
  We identified two mutations. These mutations [c.269G>A (R90H) and c.774G>A (W258X)] have been reported in Japanese patients. Two of five patients were homozygotes (W258X), two carried single heterozygous mutations (W258X), and the remaining one was a compound heterozygote (R90H and W258X).
  
  
  CONCLUSIONS
  Our study suggests that there is no regional different distribution of the URAT1 genetic mutations in Japanese with renal hypouricemia.
authors.affiliation: Third Department of Internal Medicine, Akita University School of Medicine, Japan. komatsud@med.akita-u.ac.jp
authors.forename: Atsushi
authors.initials: A
authors.lastname: Komatsuda
authors.forename: Keiko
authors.initials: K
authors.lastname: Iwamoto
authors.forename: Hideki
authors.initials: H
authors.lastname: Wakui
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Sawada
authors.forename: Akihiko
authors.initials: A
authors.lastname: Yamaguchi
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007564:Japan; D007674:Kidney Diseases / Q000097:blood* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D027361:Organic Anion Transporters / Q000235:genetics*; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D014527:Uric Acid / Q000097:blood*
chemical_list: D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human; D014527:Uric Acid