title: Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
abstract: Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report three novel independent mutations in the coding region of the HPRT1 gene from genomic DNA of (a) a carrier sister of two male patients with LND: c.569G>C, p.G190A in exon 8; and (b) two LND affected male patients unrelated to her who had two mutations: c.648delC, p.Y216X, and c.653C>G, p.A218G in exon 9. Molecular analysis reveals the heterogeneity of genetic mutation of the HPRT1 gene responsible for the HGprt deficiency. It allows fast, accurate detection of carriers 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 , San Diego , CA , USA.|b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , CA , USA.
authors.forename: Khue Vu
authors.initials: KV
authors.lastname: Nguyen
authors.affiliation: a Department of Medicine , Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego , San Diego , CA , USA.|b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , CA , USA.|c Department of Pathology , University of California, San Diego, School of Medicine , San Diego, La Jolla , CA , USA.
authors.forename: Robert K
authors.initials: RK
authors.lastname: Naviaux
authors.affiliation: b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , CA , USA.
authors.forename: William L
authors.initials: WL
authors.lastname: Nyhan
mesh_terms: D000328:Adult; D000409:Alanine; D019943:Amino Acid Substitution; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005998:Glycine; D006579:Heterozygote; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008297:Male; D009154:Mutation
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase; D000409:Alanine; D005998:Glycine
keywords: HGprt enzyme; HPRT1 gene; Lesch—Nyhan disease; PCR; mutation; sequencing