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 patient...

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Detalhes bibliográficos
Autores: Laróvere, Laura Elena, Romero, Nuria Magdalena, Fairbanks, L.D., Conde, Cecilia Beatriz, Guelbert, Norberto Bernardo, Rosa, Alberto Luis, Dodelson de Kremer, Raquel
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2004
País:Argentina
Recursos:Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:CONICET Digital (CONICET)
Idioma:inglés
OAI Identifier:oai:ri.conicet.gov.ar:11336/92956
Acesso em linha:http://hdl.handle.net/11336/92956
Access Level:acceso abierto
Palavra-chave:Hprt
Hypoxanthine-Guanine Phosphorybosil-Transferase
Lesch-Nyhan Variant
Hprt Mutation
https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
Descrição
Resumo: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.

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