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 G>A), 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.
Identification of novel L2HGDH gene mutations and update of the pathological spectrum / Vilarinho, L; Tafulo, S; Sibilio, M; Kok, F; Fontana, F; Diogo, L; Venâncio, M; Ferreira, M; Nogueira, C; Valongo, C; Parenti, Giancarlo; Amorim, A; Azevedo, L.. - In: JOURNAL OF HUMAN GENETICS. - ISSN 1435-232X. - STAMPA. - 55:1(2010), pp. 55-58.
Identification of novel L2HGDH gene mutations and update of the pathological spectrum
PARENTI, GIANCARLO;
2010
Abstract
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 G>A), 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
