Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

Frontiers in Genetics

Yili Wu¹  Chuanxin Liu¹  Qingsheng Kong²  Xigui Chen⁴  Kejian Guo⁴  Xuan Zhou⁵ 

[1] Collaborative Innovation Center for Birth Defect Research and Transformation of Shandong Province, Jining Medical University, Jining, China;Department of Biochemistry, Jining Medical University, Jining, China;Department of Psychiatry, Jining Medical University, Jining, China;Jining Maternal and Child Health Care Hospital, Jining, China;Shandong Key Laboratory of Behavioral Medicine, Jining Medical University, Jining, China;

关键词: newborn screening;    inborn errors of metabolism;    incidence of IEMs;    IEMs-associated gene mutation;   

DOI  :  10.3389/fgene.2018.00122

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown