title: Novel mutations in the human HPRT gene.
abstract: Inherited mutation of a purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT), gives rise to Lesch-Nyhan Syndrome (LNS) or HPRT-related gout. Here, we report five novel independent mutations in the coding region of the HPRT gene from five unrelated male patients manifesting different clinical phenotypes associated with LNS: exon 2: c.133A > G, p.45R > G; c.35A > C, p.12D > A; c.88delG; exon 7: c.530A > T, p.177D > V; and c.318 + 1G > C: IVS3 + 1G > C splice site mutation.
authors.affiliation: Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, University of California, San Diego, School of Medicine, San Diego, California 92103-8467, USA. kvn006@ucsd.edu
authors.forename: Khue Vu
authors.initials: KV
authors.lastname: Nguyen
authors.forename: Robert K
authors.initials: RK
authors.lastname: Naviaux
authors.forename: Kacie K
authors.initials: KK
authors.lastname: Paik
authors.forename: William L
authors.initials: WL
authors.lastname: Nyhan
mesh_terms: D001483:Base Sequence; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D009154:Mutation; D020125:Mutation, Missense
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase