title: Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
abstract: Lesch-Nyhan syndrome (LNS) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report a novel mutation which led to HGprt-related neurological dysfunction (HND) in two brothers from the same family with a missense mutation in exon 6 of the coding region of the HPRT1 gene: c.437T>C, p.L146S. Molecular diagnosis discloses the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.
authors.affiliation: a Department of Medicine , Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California , San Diego , California , USA.|b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego , California , USA.
authors.forename: Khue Vu
authors.initials: KV
authors.lastname: Nguyen
authors.affiliation: b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego , California , USA.
authors.forename: William L
authors.initials: WL
authors.lastname: Nyhan
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D056726:Genetic Association Studies; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D025202:Molecular Diagnostic Techniques; D020125:Mutation, Missense; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase
keywords: HGprt enzyme; HND; HPRT1 gene; Lesch-Nyhan syndrome; PCR; amyloid precursor protein; epigenetics; epistasis; mutation; sequencing