Identification of novel L2HGDH gene mutations and update of the pathological spectrum.
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.
Vilarinho
Laura
L
Medical Genetics Center, National Health Institute-INSA, Porto, Portugal. laura.vilarinho@igm.min-saude.pt
Tafulo
Sandra
S
Sibilio
Michelina
M
Kok
Fernando
F
Fontana
Federica
F
Diogo
Luisa
L
Venâncio
Margarida
M
Ferreira
Mariana
M
Nogueira
Celia
C
Valongo
Carla
C
Parenti
Giancarlo
G
Amorim
António
A
Azevedo
Luisa
L
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
D005977:Glutarates; D000429:Alcohol Oxidoreductases; C506763:L2HGDH protein, human