{"title":"Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant.","authors":"Wei Zhou, Huizhong Li, Li Yang","doi":"10.1016/j.ymgmr.2024.101184","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disease associated with variants in the <i>ACADVL</i> gene.</p><p><strong>Methods: </strong>In December 2021, a neonate with VLCADD was identified via newborn screening in Xuzhou, China. Genetic testing and genetic family verification were performed via high-throughput sequencing combined with Sanger sequencing. The pathogenicity and functional impacts of novel variants were predicted using bioinformatics methods.</p><p><strong>Results: </strong>Initial results obtained from tandem mass spectrometry blood screening were suggestive of VLCADD. Two compound heterozygous variants, c.753 T > G (p.S251R) and c.1276G > A (p.A426T), inherited from the father and mother, respectively, were detected in the <i>ACADVL</i> gene of this individual. The c.753 T > G variant is novel and unreported.</p><p><strong>Conclusion: </strong>These findings broaden the known mutational spectrum of the <i>ACADVL</i> gene in a Chinese population.</p>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"42 ","pages":"101184"},"PeriodicalIF":1.8000,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11733273/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Genetics and Metabolism Reports","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.ymgmr.2024.101184","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/3/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disease associated with variants in the ACADVL gene.
Methods: In December 2021, a neonate with VLCADD was identified via newborn screening in Xuzhou, China. Genetic testing and genetic family verification were performed via high-throughput sequencing combined with Sanger sequencing. The pathogenicity and functional impacts of novel variants were predicted using bioinformatics methods.
Results: Initial results obtained from tandem mass spectrometry blood screening were suggestive of VLCADD. Two compound heterozygous variants, c.753 T > G (p.S251R) and c.1276G > A (p.A426T), inherited from the father and mother, respectively, were detected in the ACADVL gene of this individual. The c.753 T > G variant is novel and unreported.
Conclusion: These findings broaden the known mutational spectrum of the ACADVL gene in a Chinese population.
背景：甚长链酰基辅酶A脱氢酶缺乏症（VLCADD）是一种罕见的常染色体隐性遗传病，与ACADVL基因变异相关。方法：2021年12月，在中国徐州通过新生儿筛查发现1例VLCADD新生儿。通过高通量测序联合Sanger测序进行基因检测和遗传家族验证。利用生物信息学方法预测新变异的致病性和功能影响。结果：串联质谱血液筛查的初步结果提示VLCADD。两个复合杂合变异体，c.753在该个体的ACADVL基因中分别检测到遗传自父亲和母亲的T > G （p.S251R）和c.1276G > A （p.A426T）。的c.753tbbb10g变异是一种新的未报道的变异。结论：这些发现拓宽了ACADVL基因在中国人群中已知的突变谱。
期刊介绍：
Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.
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