中国当代儿科杂志2024，Vol.26Issue(1)：67-71,5.DOI:10.7499/j.issn.1008-8830.2308094
甘肃地区遗传代谢病疾病谱及致病基因分析
Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China
摘要
Abstract
Objective To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder(IMD)among neonates in Gansu Province of China.Methods A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021.A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.Results A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates,and the overall prevalence rate of IMD was 0.63‰(1/1 593),among which phenylketonuria showed the highest prevalence rate of 0.32‰(1/3 083),followed by methylmalonic acidemia(0.11‰,1/8 959)and tetrahydrobiopterin deficiency(0.06‰,1/15 927).In this study,166 variants were identified in the 28 pathogenic genes,with 13 novel variants found in 9 genes.According to American College of Medical Genetics and Genomics guidelines,5 novel variants were classified as pathogenic variants,7 were classified as likely pathogenic variants,and 1 was classified as the variant of uncertain significance.Conclusions This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.关键词
遗传代谢病/基因变异/精准筛查与诊断/新生儿Key words
Inherited metabolic disorder/Genetic variation/Accurate screening and diagnosis/Neonate引用本文复制引用
张钏,曹宗富,马旭,惠玲,周秉博,郑雷,王玉佩,郝胜菊,达振强,马莹,郭金仙..甘肃地区遗传代谢病疾病谱及致病基因分析[J].中国当代儿科杂志,2024,26(1):67-71,5.基金项目
甘肃省科技计划资助项目(22YF7FA094) （22YF7FA094）
兰州市科技计划项目(2021-1-182) （2021-1-182）
甘肃省卫生行业计划项目(GSWSKY2022-33) （GSWSKY2022-33）
甘肃省科技厅创新基地及人才计划(21JR7RA680) （21JR7RA680）
甘肃省自然科学基金(23JRRA1378) （23JRRA1378）
国家科技资源共享服务平台(2005DKA21300). （2005DKA21300）
