Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.

IF 4 Q1 GENETICS & HEREDITY
Haili Hu, Qingqing Ma, Weidong Li, Yan Wang, Wangsheng Song, Yong Huang
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Abstract

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.

中国合肥通过新生儿筛查发现的短链酰基-CoA脱氢酶缺乏症的患病率和突变分析。
短链酰基-CoA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错误,其生化和遗传特征变化很大。本研究旨在估算通过筛查发现的新生儿中 SCADD 的患病率和遗传特征。自2016年1月至2023年12月,合肥新生儿筛查中心共对782930名新生儿进行了SCADD筛查。新生儿血样采用串联质谱法(MS/MS)进行检测。对疑似 SCADD 的新生儿采用新一代基因测序法进行复查确诊。对 SCADD 患者及其父母使用 Sanger 测序法验证基因突变位点。共有 21 例 SCADD 病例得到确诊,发病率为 1/37,282。在所有 21 个病例中都发现了基因突变,包括 15 例复合杂合变异和 6 例同源变异。发现了21种不同的突变类型和42个突变位点,其中最常见的突变是c.1031A>G,占21.43%(9/42),其次是c.1130C>T,占16.67%(7/42)。c.1031A>G 和 c.1130C>T 是新生儿 SCADD 基因的常见突变位点。通过 NBS 诊断出的 SCADD 主要是一种良性疾病,早期诊断并不一定是必要的。
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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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