摘要
目的:分析新生儿2-甲基丁酰辅酶A脱氢酶缺乏症(2-MBAD)的基因型及临床特征。方法:选取2015年12月-2020年12月怀化市出生且接受疾病筛查的新生儿147947例为研究对象,分析2-MBAD发生率,2-MBAD患儿的基因类型、临床特征。结果:经串联质谱(MS/MS)筛查并结合基因检测诊断为2-MBAD的新生儿26例(1/5690),其中汉族10例,侗族8例,苗族7例,瑶族1例。发现短链或支链酰基辅酶A脱氢酶基因c.1165A>G 15个纯合突变位点,6种突变类型:3种为已报道突变(c.1165A>G、c.655G>A、c.923G>A);3种临床意义未明突变(c.1164G>C、c.1106T>A、c.848A>G);c.1165A>G是最常见基因型。未见民族、表型、基因型相关性。随访2~52个月,9例患儿出现发育迟缓。结论:确诊年龄越早、干预及时对患儿的精神运动发育情况影响越轻。
Objective:To analyze the gene types and clinical feature of newborns with 2-methylbutyryl-CoA dehydrogenase deficiency(2-MBAD).Methods:A total of 147947 neonates born in Huaihua City from December 2015 to December 2020 who received disease screening were selected as the research objects.The incidence of 2-MBAD,genotypes and clinical characteristics of children with 2-MBAD were analyzed.Results:Twenty-six neonates(1/5690)were diagnosed with 2-MBAD by tandem mass spectrometry(MS/MS)screening combined with genetic testing,including 10 cases of Han nationality,8 cases of Dong nationality,7 cases of Miao nationality,and 1 case of Yao nationality.There were 15 homozygous mutation sites in the short/branched-chain acyl-CoA dehydrogenase(ACADSB)gene c.1165A>G,and 6 mutation types:3 reported mutations(c.1165A>G,c.655G>A,c.923G>A);3 mutations of unknown clinical significance(c.1164G>C,c.1106T>A,c.848A>G);c.1165A>G was the most common genotype.No ethnic,phenotype,and genotype correlations were found.During the follow-up period of 2 to 52 months,9 cases developed retardation.Conclusion:The earlier the age of diagnosis and the timely intervention,the lesser the impact on children's psychomotor development.
作者
沈玉燕
赵敏
Shen Yu-yan;Zhao Min(Neonatal Screening Center,Huaihua Maternal and Child Health Care Hospital,Huaihua 418000,Hunan Province,China)
出处
《中国社区医师》
2022年第22期37-39,共3页
Chinese Community Doctors
基金
湖南省卫生计生委科研计划课题项目资助(编号:202112071744)。
