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.