title: A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant.
abstract: The hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is an inborn error of purine metabolism, responsible for classic Lesch-Nyhan disease and its neurological and hyperuricemic variants. We report a novel mutation in the HPRT gene, c.584A > C (Y195S), in two unrelated Argentine patients affected with the neurological variant with no HPRT activity in lysed erythrocytes. Using PCR plus DNA sequencing and/or restriction enzyme digestion we were able to confirm the diagnosis and identify new cases and potential carriers.
authors.affiliation: Centro de Estudio de las Metabolopatías Congénitas, Cátedra de Clínica Pediátrica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina. lauralarovere@hotmail.com
authors.forename: L E
authors.initials: LE
authors.lastname: Laróvere
authors.forename: N
authors.initials: N
authors.lastname: Romero
authors.forename: L D
authors.initials: LD
authors.lastname: Fairbanks
authors.forename: C
authors.initials: C
authors.lastname: Conde
authors.forename: N
authors.initials: N
authors.lastname: Guelbert
authors.forename: A L
authors.initials: AL
authors.lastname: Rosa
authors.forename: R Dodelson
authors.initials: RD
authors.lastname: de Kremer
mesh_terms: D000293:Adolescent; D001118:Argentina; D002648:Child; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D020125:Mutation, Missense
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase