A novel missense mutation, 584A>C (S195Y), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant

L.E. LARÓVERE; N. ROMERO; L.D. FAIRBANKS; C. CONDE; N. GUELBERT; A.L. ROSA ; R. DODELSON DE KREMER

ACADEMIC PRESS INC ELSEVIER SCIENCE

Lugar: Orlando; Año: 2004 vol. 81 p. 352 - 352

he 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.