title: Normal HPRT coding region in a male with gout due to HPRT deficiency.
abstract: A deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT; EC 2.4.2.8) is associated with a spectrum of disease that ranges from gouty arthritis (OMIM 300323) to the more severe Lesch-Nyhan syndrome (OMIM 300322). To date, all cases of HPRT deficiency have shown a mutation within the HPRT cDNA. In the present study of an individual with gout due to HPRT deficiency, we found a normal HPRT cDNA sequence. This is the first study to provide an example of HPRT deficiency which appears to be due to a defect in the regulation of the gene.
authors.affiliation: Department of Medicine, University of Queensland, Princess Alexandra Hospital, Brisbane, Qld 4102, Australia. paul.dawson@uq.edu.au
authors.forename: Paul A
authors.initials: PA
authors.lastname: Dawson
authors.forename: Ross B
authors.initials: RB
authors.lastname: Gordon
authors.forename: Dianne T
authors.initials: DT
authors.lastname: Keough
authors.forename: Bryan T
authors.initials: BT
authors.lastname: Emmerson
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D018076:DNA, Complementary / Q000235:genetics; D015971:Gene Expression Regulation, Enzymologic; D006073:Gout / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D008214:Lymphocytes; D008297:Male; D009154:Mutation
chemical_list: D018076:DNA, Complementary; D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase