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.