Hu Haili, Ma Qingqing, Li Weidong, Wang Yan, Song Wangsheng, Huang Yong
Anhui Women and Children's Medical Center, Hefei 230001, China.
Department of Children's Health, Maternal and Child Medical Center, Anhui Medical University, Hefei 230001, China.
Int J Neonatal Screen. 2024 Oct 2;10(4):68. doi: 10.3390/ijns10040068.
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation with highly variable biochemical and genetic characteristics. The present study aimed to estimate the prevalence and genetic characteristics of SCADD in newborns identified through screening. A total of 782,930 newborns were screened for SCADD in Hefei Neonatal Screening Center from January 2016 to December 2023. The blood samples from newborns were measured by tandem mass spectrometry (MS/MS). The suspected SCADD neonates were rechecked using next-generation gene sequencing for diagnosis. Sanger sequencing was used to verify the mutation site for patients with SCADD and their parents. A total of 21 SCADD cases were confirmed, with an incidence rate of 1/37,282. Genetic mutations were identified in all 21 cases, including 15 cases of compound heterozygous variation and 6 cases of homozygous variation. Twenty-one different mutation types and forty-two mutation sites were discovered, with the most frequent mutation being c.1031A>G, accounting for 21.43% (9/42), followed by c.1130C>T, accounting for 16.67% (7/42). Our findings expand the SCADD mutational spectra. c. 1031A>G and c.1130C>T are the common mutation sites for SCADD genes in newborns. SCADD diagnosed through NBS is primarily a benign condition, and early diagnosis is not necessarily essential.
短链酰基辅酶A脱氢酶缺乏症（SCADD）是一种常染色体隐性遗传的线粒体脂肪酸氧化先天性代谢缺陷病，具有高度可变的生化和遗传特征。本研究旨在评估通过筛查确诊的新生儿中SCADD的患病率及遗传特征。2016年1月至2023年12月期间，合肥新生儿筛查中心对782,930名新生儿进行了SCADD筛查。采用串联质谱法（MS/MS）检测新生儿血样。对疑似SCADD的新生儿采用二代基因测序进行复查以明确诊断。采用桑格测序法对SCADD患者及其父母的突变位点进行验证。共确诊21例SCADD病例，发病率为1/37,282。21例均检测到基因突变，其中15例为复合杂合变异，6例为纯合变异。共发现21种不同的突变类型和42个突变位点，最常见的突变是c.1031A>G，占21.43%（9/42），其次是c.1130C>T，占16.67%（7/42）。我们的研究结果扩展了SCADD的突变谱。c.1031A>G和c.1130C>T是新生儿SCADD基因的常见突变位点。通过新生儿疾病筛查（NBS）诊断出的SCADD主要为良性情况，早期诊断不一定必要。
