Identification of novel L2HGDH gene mutations and update of the pathological spectrum.
J Hum Genet
; 55(1): 55-8, 2010 Jan.
Article
em En
| MEDLINE
| ID: mdl-19911013
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Oxirredutases do Álcool
/
Erros Inatos do Metabolismo dos Aminoácidos
/
Glutaratos
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Animals
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Região como assunto:
America do sul
/
Brasil
/
Europa
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article