Identification of novel L2HGDH gene mutations and update of the pathological spectrum

• Author(s): 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
• Date: 2010
• Persistent ID: http://hdl.handle.net/10400.18/177
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Common origin; Haplotypic structure; L2HGDH gene; Mutational spectrum;; Novel mutations; Organic aciduria; Doenças Genéticas
• Document Type: Journal article
• Language: English
• Contributor(s): Repositório Científico do Instituto Nacional de Saúde

Description

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.