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Título: Identification of novel L2HGDH gene mutations and update of the pathological spectrum
Autor: Vilarinho, Laura
Tafulo, Sandra
Sibilio, Michelina
Kok, Fernando
Fontana, Federica
Diogo, Luisa
Venâncio, Margarida
Ferreira, Mariana
Nogueira, Celia
Valongo, Carla
Parenti, Giancarlo
Amorim, António
Azevedo, Luisa
Palavras-chave: Common origin
Haplotypic structure
L2HGDH gene
Mutational spectrum;
Novel mutations
Organic aciduria
Doenças Genéticas
Issue Date: 1-Jan-2010
Editora: Nature Publishing Group
Citação: J Hum Genet. 2010 Jan;55(1):55-8. Epub 2009 Nov 13
Resumo: L-2-hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a neurometabolic disorder caused by the toxic accumulation of high concentration of L-2-hydroxyglutaric acid in plasma and cerebrospinal fluid. Distinct mutations on the L2HGDH gene have been associated with the clinical and biochemical phenotype. Here we present three novel mutations (Gln197X, Gly211Val and c.540+1 G4A), which increase the present deleterious collection of L2HGDH gene up to 35 mutations that we have compiled in this study. In addition, we used the haplotypic information based on polymorphic markers to demonstrate the common origin of Gly57Arg harboring chromosomes.
Arbitragem científica: yes
ISSN: 1434-5161
Versão do Editor:
Appears in Collections:DGH - Artigos em revistas internacionais

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