青岛大学学报（医学版）2024，Vol.60Issue(2)：180-183,4.DOI:10.11712/jms.2096-5532.2024.60.037
极长链酰基辅酶A脱氢酶缺乏症1例基因突变分析
Analysis of gene mutations in a case of very long-chain acyl-CoA dehydrogenase deficiency
摘要
Abstract
Objective To analyze the suspected pathogenic gene mutations in a child with very long-chain acyl-CoA dehydro-genase deficiency(VLCADD),and to investigate the relationship between gene mutation and the phenotype of the disease.Me-thods A child with VLCADD was assigned to the experimental group and 200 healthy subjects were assigned to the control group.The acyl carnitine profile in the child with VLCADD was determined by tandem mass spectrometry,the mutation screening was performed by whole exon sequencing,and the suspected gene mutation sites were identified by alignment against the human ge-nome sequences in gnomAD and 1000Genomes database.Verification with Sanger sequencing was performed for the child and the parents.Results Tandem mass spectrometry showed increased tetradecenoylcarnitine(C14∶1)as an indicator of VLCADD,and the diagnosis was confirmed by an increase of＞1 μmol/L.Whole exon sequencing revealed complex heterozygous mutations in ACADVL gene in Exon 8(c.664G＞A)and Exon 13(c.1276G＞A).Sanger sequencing confirmed that c.664G＞A came from the mother and c.1276G＞A came from the father.These mutations were not found in 200 normal subjects.Conclusion The com-plex heterozygous mutations c.664G＞A and c.1276G＞A in ACADVL may be the pathogenic mutations of VLCADD.Tandem mass spectrometry combined with high-throughput gene sequencing provides an important basis for early clinical screening and diagnosis of VLCADD.关键词
极长链酰基辅酶A脱氢酶缺乏症/串联质谱法/DNA突变分析Key words
very long-chain acyl coenzyme A dehydrogenase deficiency/tandem mass spectrometry/DNA mutational analy-sis分类
医药卫生引用本文复制引用
李玲,巩霞,张铷,郑璇,张仁伟,刘世国..极长链酰基辅酶A脱氢酶缺乏症1例基因突变分析[J].青岛大学学报（医学版）,2024,60(2):180-183,4.基金项目
国家自然科学基金项目(82071683) （82071683）
