A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 529-533, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-689594
ABSTRACT
This article reports the results of tandem mass spectrometry and the mutation features of the ETFDH gene for an infant with multiple acyl-CoA dehydrogenase deficiency. The results of tandem mass spectrometry showed that C14 1, C8, C6, C10, and C12 increased. Exon sequencing was performed on this infant and his parents and revealed double heterozygous mutations in the ETFDH gene of the infant c.992A>T and c.1450T>C. The former was inherited from his mother, and the latter was inherited from his father. c.1450T>C was shown to be the pathogenic mutation in the HGMD database. PolyPhen2, SIFT, and PROVEAN all predicted that the novel mutation c.992A>T might be pathogenic, and the mutant amino acids were highly conserved across various species. The findings expand the mutation spectrum of the ETFDH gene, and provide molecular evidence for the etiological diagnosis of the patient with multiple acyl-CoA dehydrogenase deficiency as well as for the genetic counseling and prenatal diagnosis in the family.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Sequência de Bases
/
Éxons
/
Flavoproteínas Transferidoras de Elétrons
/
Deficiência Múltipla de Acil Coenzima A Desidrogenase
/
Oxirredutases atuantes sobre Doadores de Grupo CH-NH
/
Genética
/
Proteínas Ferro-Enxofre
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2018
Tipo de documento:
Artigo
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