A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase defciency
CSTR:
Author:
Affiliation:

Clc Number:

Fund Project:

  • Article
  • |
  • Figures
  • |
  • Metrics
  • |
  • Reference
  • |
  • Related
  • |
  • Cited by
  • |
  • Materials
  • |
  • Comments
    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 defciency. 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 fndings expand the mutation spectrum of the ETFDH gene, and provide molecular evidence for the etiological diagnosis of the patient with multiple acyl-CoA dehydrogenase defciency as well as for the genetic counseling and prenatal diagnosis in the family.

    Reference
    Related
    Cited by
Get Citation

高昂, 乔龙威, 段程颖, 赵楠楠, 张薇, 张芹.多种酰基辅酶A脱氢酶缺乏症患儿ETFDH基因新突变研究[J].中国当代儿科杂志英文版,2018,20(7):529-533

Copy
Share
Article Metrics
  • Abstract:
  • PDF:
  • HTML:
  • Cited by:
History
  • Received:March 06,2018
  • Revised:June 13,2018
  • Adopted:
  • Online: July 25,2018
  • Published:
Article QR Code