Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China
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 identif...
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2024-10-01
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| Series: | International Journal of Neonatal Screening |
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| author | Haili Hu Qingqing Ma Weidong Li Yan Wang Wangsheng Song Yong Huang |
| author_facet | Haili Hu Qingqing Ma Weidong Li Yan Wang Wangsheng Song Yong Huang |
| author_sort | Haili Hu |
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| description | 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. |
| format | Article |
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| institution | Kabale University |
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| language | English |
| publishDate | 2024-10-01 |
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| series | International Journal of Neonatal Screening |
| spelling | doaj-art-4f7b8d254f8a436b8ab29aaf95a8e11c2024-12-27T14:30:13ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2024-10-011046810.3390/ijns10040068Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, ChinaHaili Hu0Qingqing Ma1Weidong Li2Yan Wang3Wangsheng Song4Yong Huang5Anhui Women and Children’s Medical Center, Hefei 230001, ChinaHefei Women and Children Health Center, Hefei 230092, ChinaHefei Women and Children Health Center, Hefei 230092, ChinaHefei Women and Children Health Center, Hefei 230092, ChinaHefei Women and Children Health Center, Hefei 230092, ChinaAnhui Women and Children’s Medical Center, Hefei 230001, ChinaShort-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.https://www.mdpi.com/2409-515X/10/4/68short-chain acyl CoA dehydrogenase deficiencynewborn screeningtandem mass spectrometrygenetic mutation |
| spellingShingle | Haili Hu Qingqing Ma Weidong Li Yan Wang Wangsheng Song Yong Huang Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China International Journal of Neonatal Screening short-chain acyl CoA dehydrogenase deficiency newborn screening tandem mass spectrometry genetic mutation |
| title | Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China |
| title_full | Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China |
| title_fullStr | Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China |
| title_full_unstemmed | Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China |
| title_short | Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China |
| title_sort | prevalence and mutation analysis of short chain acyl coa dehydrogenase deficiency detected by newborn screening in hefei china |
| topic | short-chain acyl CoA dehydrogenase deficiency newborn screening tandem mass spectrometry genetic mutation |
| url | https://www.mdpi.com/2409-515X/10/4/68 |
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