谷胱甘肽合成酶缺乏症2例基因分析及文献回顾

摘要

目的 探讨谷胱甘肽合成酶缺乏症(GSSD)的临床及遗传学特点.方法 对2014年1至12月西安市儿童医院内分泌遗传代谢科临床诊断的2例5-羟脯氨酸尿症的患儿进行临床特点分析,采用目标序列捕获测序方法,对患儿进行谷胱甘肽合成酶(GSS)基因分析,再经聚合酶链式反应(PCR)对高危突变基因进行验证,最终确诊为GSSD;并进行相关临床特点总结及基因学分析.结果 GSSD临床表现为代谢性酸中毒、黄疸、溶血性贫血,GSS基因检测出致病突变,其中1例为复合杂合突变(E5 c.491G>A和E10 c.847C>T),1例为纯合突变(E5 c.491G>A).结论 E5 c.491G>A基因突变可能为GSSD热点基因突变.%Objective To investigate the clinical and genetic characteristics of glutathione synthase deficiency(GSSD).Methods The clinical characteristics of 2 infants diagnosed with 5-oxoprolinuria in Xi'an Children's Hospital were analyzed retrospectively.The glutathione synthetase(GSS)gene was analyzed by target sequencing method.The high-risk mutations genes were verified by polymerase chain reaction(PCR).The final diagnosis was GSSD and relevant clinical features and genetics were analyzed.Results The clinical manifestations of GSSD were metabolic acidosis,jaundice and hemolytic anemia.One case was detected to be compound heterozygous mutation(E5 c.491G>A and E10 c.847C>T)and the other was homozygous mutation(E5 c.491G> A) by GSS gene analysis.Conclusion E5 c.491G> A gene mutation might be an important gene mutation of GSSD.