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.584AC (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. © 2004 Elsevier Inc. All rights reserved.

Palabras clave: Hprt , Hypoxanthine-Guanine Phosphorybosil-Transferase , Lesch-Nyhan Variant , Hprt Mutation

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Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)

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URI: http://hdl.handle.net/11336/92956

DOI: https://doi.org/10.1016/j.ymgme.2004.01.013

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Articulos(IIBBA)
Articulos de INST.DE INVEST.BIOQUIMICAS DE BS.AS(I)

Articulos(INIMEC - CONICET)
Articulos de INSTITUTO DE INV. MEDICAS MERCEDES Y MARTIN FERREYRA

Citación

Laróvere, Laura Elena; Romero, Nuria Magdalena; Fairbanks, L.D.; Conde, Cecilia Beatriz; Guelbert, Norberto Bernardo; et al.; A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant; Academic Press Inc Elsevier Science; Molecular Genetics And Metabolism; 81; 4; 4-2004; 352-354

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