Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and deat...
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Frontiers Media S.A.
2018-04-01
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| Series: | Frontiers in Genetics |
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| Online Access: | http://journal.frontiersin.org/article/10.3389/fgene.2018.00122/full |
| _version_ | 1818540356606623744 |
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| author | Kejian Guo Xuan Zhou Xuan Zhou Xigui Chen Yili Wu Yili Wu Yili Wu Chuanxin Liu Chuanxin Liu Qingsheng Kong Qingsheng Kong |
| author_facet | Kejian Guo Xuan Zhou Xuan Zhou Xigui Chen Yili Wu Yili Wu Yili Wu Chuanxin Liu Chuanxin Liu Qingsheng Kong Qingsheng Kong |
| author_sort | Kejian Guo |
| collection | DOAJ |
| description | The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs. Thirty mutations in nine IEMs-associated genes were identified in 28 confirmed cases. As 19 cases with the mutations in phenylalanine hydroxylase (PAH), solute carrier family 22 member 5 (SLC22A5), and methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria (MMACHC) genes, respectively, it suggested that mutations in the PAH, SLC22A5, and MMACHC genes are the predominant causes of IEMs, leading to the high incidence of phenylketonuria, primary carnitine deficiency, and methylmalonic acidemia, respectively. Our work indicated that the overall incidence of IEMs is high and the mutations in PAH, SLC22A5, and MMACHC genes are the leading causes of IEMs in Jining area. Therefore, it is critical to increase the coverage of expanded newborn screening by MS/MS and prenatal genetic consulting in Jining area. |
| first_indexed | 2024-12-11T21:54:16Z |
| format | Article |
| id | doaj.art-d0cd49afd8d4487283d86c4175eb269d |
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| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-11T21:54:16Z |
| publishDate | 2018-04-01 |
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| series | Frontiers in Genetics |
| spelling | doaj.art-d0cd49afd8d4487283d86c4175eb269d2022-12-22T00:49:22ZengFrontiers Media S.A.Frontiers in Genetics1664-80212018-04-01910.3389/fgene.2018.00122355790Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese PopulationKejian Guo0Xuan Zhou1Xuan Zhou2Xigui Chen3Yili Wu4Yili Wu5Yili Wu6Chuanxin Liu7Chuanxin Liu8Qingsheng Kong9Qingsheng Kong10Jining Maternal and Child Health Care Hospital, Jining, ChinaDepartment of Psychiatry, Jining Medical University, Jining, ChinaShandong Key Laboratory of Behavioral Medicine, Jining Medical University, Jining, ChinaJining Maternal and Child Health Care Hospital, Jining, ChinaDepartment of Psychiatry, Jining Medical University, Jining, ChinaShandong Key Laboratory of Behavioral Medicine, Jining Medical University, Jining, ChinaCollaborative Innovation Center for Birth Defect Research and Transformation of Shandong Province, Jining Medical University, Jining, ChinaDepartment of Psychiatry, Jining Medical University, Jining, ChinaCollaborative Innovation Center for Birth Defect Research and Transformation of Shandong Province, Jining Medical University, Jining, ChinaCollaborative Innovation Center for Birth Defect Research and Transformation of Shandong Province, Jining Medical University, Jining, ChinaDepartment of Biochemistry, Jining Medical University, Jining, ChinaThe incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs. Thirty mutations in nine IEMs-associated genes were identified in 28 confirmed cases. As 19 cases with the mutations in phenylalanine hydroxylase (PAH), solute carrier family 22 member 5 (SLC22A5), and methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria (MMACHC) genes, respectively, it suggested that mutations in the PAH, SLC22A5, and MMACHC genes are the predominant causes of IEMs, leading to the high incidence of phenylketonuria, primary carnitine deficiency, and methylmalonic acidemia, respectively. Our work indicated that the overall incidence of IEMs is high and the mutations in PAH, SLC22A5, and MMACHC genes are the leading causes of IEMs in Jining area. Therefore, it is critical to increase the coverage of expanded newborn screening by MS/MS and prenatal genetic consulting in Jining area.http://journal.frontiersin.org/article/10.3389/fgene.2018.00122/fullnewborn screeninginborn errors of metabolismincidence of IEMsIEMs-associated gene mutation |
| spellingShingle | Kejian Guo Xuan Zhou Xuan Zhou Xigui Chen Yili Wu Yili Wu Yili Wu Chuanxin Liu Chuanxin Liu Qingsheng Kong Qingsheng Kong Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population Frontiers in Genetics newborn screening inborn errors of metabolism incidence of IEMs IEMs-associated gene mutation |
| title | Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population |
| title_full | Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population |
| title_fullStr | Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population |
| title_full_unstemmed | Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population |
| title_short | Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population |
| title_sort | expanded newborn screening for inborn errors of metabolism and genetic characteristics in a chinese population |
| topic | newborn screening inborn errors of metabolism incidence of IEMs IEMs-associated gene mutation |
| url | http://journal.frontiersin.org/article/10.3389/fgene.2018.00122/full |
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