Normal HPRT coding region in a male with gout due to HPRT deficiency.
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.
Dawson
Paul A
PA
Department of Medicine, University of Queensland, Princess Alexandra Hospital, Brisbane, Qld 4102, Australia. paul.dawson@uq.edu.au
Gordon
Ross B
RB
Keough
Dianne T
DT
Emmerson
Bryan T
BT
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
D018076:DNA, Complementary; D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase