title: Identification of novel L2HGDH gene mutations and update of the pathological spectrum.
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.
authors.affiliation: Medical Genetics Center, National Health Institute-INSA, Porto, Portugal. laura.vilarinho@igm.min-saude.pt
authors.forename: Laura
authors.initials: L
authors.lastname: Vilarinho
authors.forename: Sandra
authors.initials: S
authors.lastname: Tafulo
authors.forename: Michelina
authors.initials: M
authors.lastname: Sibilio
authors.forename: Fernando
authors.initials: F
authors.lastname: Kok
authors.forename: Federica
authors.initials: F
authors.lastname: Fontana
authors.forename: Luisa
authors.initials: L
authors.lastname: Diogo
authors.forename: Margarida
authors.initials: M
authors.lastname: Venâncio
authors.forename: Mariana
authors.initials: M
authors.lastname: Ferreira
authors.forename: Celia
authors.initials: C
authors.lastname: Nogueira
authors.forename: Carla
authors.initials: C
authors.lastname: Valongo
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.forename: Luisa
authors.initials: L
authors.lastname: Azevedo
mesh_terms: D000328:Adult; D000429:Alcohol Oxidoreductases / Q000235:genetics*; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology*; D000595:Amino Acid Sequence; D000818:Animals; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011174:Portugal
chemical_list: D005977:Glutarates; D000429:Alcohol Oxidoreductases; C506763:L2HGDH protein, human