摘要
甲基丙二酸尿症(MMA)是一种少见的儿童遗传代谢病,本研究收集2例MMA患儿,分析其临床特征,采用二代测序技术对MMA相关基因进行检测,再经Sanger测序对突变进行验证。研究发现2例患儿均有喂养困难、精神不佳等临床特征,基因测序明确了2例MMA患儿均存在MMACHC基因复合杂合突变,病例1为c.394C>T(p.R132X)和c.609G>A(p.W203X)突变,病例2为c.567dup T(p.R189fs)和c.609G>A(p.W203X)突变,均确诊为MMA的cbl C亚型。
Methylmalonie aciduria （MMA） is a rare inherited metabolic disease in childhood.In this study,the clinical characteristics were analyzed and the gene mutations were detected by next-generation sequencing （NGS） in two infants who were diagnosed clinically as MMA.The mutations identified by NGS were verified by Sanger sequencing.Writers found that the clinical symptoms included feeding difficuhies,poor psychosis etc..In two cases of MMA,eompound heterozygous mutations in MMA CHC gene was detected in case 1 and case 2 respectively.Case 1 had c.394C〉T （p.R132X） and c.609G〉A（p.W203X） mutation,and Case 2 had c.567dupT （p.R189fs） mutation and c.609G〉A （p.W203X） mutation in MMA CHC gene.Both of 2 cases were diagnosed as cblC subtype.
出处
《中国当代医药》
2016年第31期104-106,共3页
China Modern Medicine
基金
山东省医药卫生科技发展计划项目(2013WS0003)
关键词
甲基丙二酸尿症
临床特征
基因突变
Methylmalonic aciduria
Clinical characteristics
Gene mutation
