多种酰基辅酶A脱氢酶缺乏症患儿ETFDH基因新突变研究

本文报道了1例多种酰基辅酶A脱氢酶缺乏症患儿串联质谱筛查结果及ETFDH基因突变特点。该患儿串联质谱筛查结果显示C14：1升高，C8升高，同时还有C6、C10、C12均升高。对患儿及其父母行外显子测序，结果发现患儿ETFDH基因存在双杂合突变，分别是c.992A > T和c.1450T > C，前者遗传于母亲，后者遗传于父亲。c.1450T > C在HGMD数据库中显示为致病性突变。Polyphen-2、Provean等软件均预测c.992A > T这个新突变可能致病，突变的氨基酸在不同物种间高度保守。该研究拓展了ETFDH基因突变谱，为多种酰基辅酶A脱氢酶缺乏症患儿病因诊断及其家系的遗传咨询和产前诊断提供了分子依据。

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

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.