Identification of novel L2HGDH gene mutations and update of the pathological spectrum
| Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
|---|---|
| Data(s) |
19/10/2012
19/10/2012
2010
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| Resumo |
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. Journal of Human Genetics (2010) 55, 55-58; doi: 10.1038/jhg.2009.110; published online 13 November 2009 Fundacao para a Ciencia e a Tecnologia (FCT)[C2007-IPATIMUP/AA1] European Social Fund Programa Operacional Ciencia e Inovacao[POCI 2010] VI Programa Quadro |
| Identificador |
JOURNAL OF HUMAN GENETICS, v.55, n.1, p.55-58, 2010 1434-5161 http://producao.usp.br/handle/BDPI/21194 10.1038/jhg.2009.110 |
| Idioma(s) |
eng |
| Publicador |
NATURE PUBLISHING GROUP |
| Relação |
Journal of Human Genetics |
| Direitos |
restrictedAccess Copyright NATURE PUBLISHING GROUP |
| Palavras-Chave | #common origin #haplotypic structure #L2HGDH gene #mutational spectrum #novel mutations #organic aciduria #L-2-HYDROXYGLUTARIC ACIDURIA #KEGG #DEHYDROGENASE #GENOMES #Genetics & Heredity |
| Tipo |
article original article publishedVersion |
