Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 48-52, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-247738
ABSTRACT
<p><b>OBJECTIVE</b>To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria.</p><p><b>METHODS</b>Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing.</p><p><b>RESULTS</b>DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes.</p><p><b>CONCLUSION</b>Mutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Encéfalo
/
Diagnóstico por Imagem
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Radiografia
/
Encefalopatias Metabólicas Congênitas
/
Oxirredutases do Álcool
/
Genética
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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