title: Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem.
abstract: A novel point mutation (I137T) was identified in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) encoding gene, in a patient with partial deficiency of the enzyme. The mutation, ATT to ACT (substitution of isoleucine to threonine), occurred at codon 137, which is within the region encoding the binding site for 5-phosphoribosyl-1-pyrophosphate (PRPP). The mutation caused decreased affinity for PRPP, manifested clinically as a Lesch-Nyhan variant (excessive purine production and delayed acquisition of language skills). The partial HPRT deficiency could be detected only by measuring HPRT activity in intact fibroblasts (uptake of hypoxanthine into nucleotides).
authors.affiliation: Department of Clinical Biochemistry, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Zoref-Shani
authors.forename: Y
authors.initials: Y
authors.lastname: Bromberg
authors.forename: J
authors.initials: J
authors.lastname: Hirsch
authors.forename: S
authors.initials: S
authors.lastname: Feinstein
authors.forename: Y
authors.initials: Y
authors.lastname: Frishberg
authors.forename: O
authors.initials: O
authors.lastname: Sperling
mesh_terms: D001665:Binding Sites; D002675:Child, Preschool; D003062:Codon; D018076:DNA, Complementary / Q000378:metabolism; D004912:Erythrocytes / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D007532:Isoleucine / Q000737:chemistry; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009154:Mutation; D010754:Phosphoribosyl Pyrophosphate / Q000235:genetics; D017354:Point Mutation; D013912:Threonine / Q000737:chemistry
chemical_list: D003062:Codon; D018076:DNA, Complementary; D007532:Isoleucine; D013912:Threonine; D010754:Phosphoribosyl Pyrophosphate; D007041:Hypoxanthine Phosphoribosyltransferase