A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency.
- Author:
Ang GAO
1
;
Long-Wei QIAO
;
Cheng-Ying DUAN
;
Nan-Nan ZHAO
;
Wei ZHANG
;
Qin ZHANG
Author Information
1. Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University/Suzhou Municipal Hospital, Suzhou, Jiangsu 215000, China. zhangq110004@163.com.
- Publication Type:Case Reports
- MeSH:
Base Sequence;
Electron-Transferring Flavoproteins;
genetics;
Exons;
Humans;
Infant, Newborn;
Iron-Sulfur Proteins;
genetics;
Male;
Multiple Acyl Coenzyme A Dehydrogenase Deficiency;
enzymology;
genetics;
Mutation;
Oxidoreductases Acting on CH-NH Group Donors;
genetics
- From:
Chinese Journal of Contemporary Pediatrics
2018;20(7):529-533
- CountryChina
- Language:Chinese
-
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.
