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Article

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

Journal of human genetics - 1 Jan 2010

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

Abstract excerpt

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...

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Identifiers

PMID: 19911013
DOI: 10.1038/jhg.2009.110

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