Gao Ang, Qiao Long-Wei, Duan Cheng-Ying, Zhao Nan-Nan, Zhang Wei, Zhang Qin
Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University/Suzhou Municipal Hospital, Suzhou, Jiangsu 215000, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Jul;20(7):529-533. doi: 10.7499/j.issn.1008-8830.2018.07.003.
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.
本文报道了一名患有多种酰基辅酶A脱氢酶缺乏症婴儿的串联质谱结果及ETFDH基因的突变特征。串联质谱结果显示C14 : 1、C8、C6、C10和C12升高。对该婴儿及其父母进行了外显子测序，结果显示该婴儿的ETFDH基因存在双杂合突变：c.992A>T和c.1450T>C。前者遗传自其母亲，后者遗传自其父亲。在HGMD数据库中，c.1450T>C被证明是致病突变。PolyPhen2、SIFT和PROVEAN均预测新突变c.992A>T可能致病，且突变氨基酸在不同物种间高度保守。这些发现扩展了ETFDH基因的突变谱，为多种酰基辅酶A脱氢酶缺乏症患者的病因诊断以及该家庭的遗传咨询和产前诊断提供了分子证据。
