A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant.
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.
Laróvere
L E
LE
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
Romero
N
N
Fairbanks
L D
LD
Conde
C
C
Guelbert
N
N
Rosa
A L
AL
de Kremer
R Dodelson
RD
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
D007041:Hypoxanthine Phosphoribosyltransferase