摘要
目的探讨GM1神经节苷脂贮积症的临床表现及β-半乳糖苷酶基因(GLB1)突变特点。方法回顾分析1例2018年3月于郑州大学附属儿童医院神经内科就诊的,经酶学及基因检测诊断的GM1神经节苷脂贮积症患儿的临床资料,并复习相关文献。结果男性患儿,4岁1个月,主要临床表现为精神运动发育倒退;β-半乳糖苷酶活力低(8.0 nmol·g^-1·min^-1)。目标序列捕获和二代测序检测发现患儿GLB1基因内含子区域存在两处杂合突变:c.458-2A(IVS4)>G和c.1068+5G(IVS10)>A,均为剪切位点突变;Sanger测序验证结果显示c.1068+5G(IVS10)>A突变来源于患儿母亲,c.458-2A(IVS4)>G为新发变异,患儿该基因为复合杂合突变。结论GM1神经节苷脂贮积症是一种罕见的神经退行性疾病,酶活性检测及基因检测有助明确诊断。
Objective To investigate the clinical and CLB1 gene mutation characteristics of GM1 gangliosidosis patient. Methods The clinical data of one GM1 gangliosidosis patient from Children′s Hospital Affiliated to Zhengzhou University in March 2018 were reviewed and analyzed. The patient was diagnosed by gene detection and enzymatic activity. Results The patient is a 4 years and 1 month old boy, mainly presented psychomotor retrogression. His β-galactosidase activity was low (8.0 nmol·g-1·min-1). Two splice site mutations (c.458-2A(IVS4)>G and c.1068+5G(IVS10)>A) of patient′s CLB1 gene were screened by targeted next generation sequencing. The results of Sanger sequencing showed that the mutations are compound heterozygous and both are first reported. The mutation c.1068+5G(IVS10)>A was derived from patient′s mother, and the other one is de nove. Conclusion GM1 gangliosidosis is a rare neurodegenerative disease, which could be accurately diagnosed by the next generation sequencing and enzyme assay.
作者
杨志刚
王媛
陈国洪
梅道启
李春鸽
王潇娜
Yang Zhigang;Wang Yuan;Chen Guohong;Mei Daoqi;Li Chunge;Wang Xiaona(Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450000, China)
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2019年第10期812-816,共5页
Chinese Journal of Neurology
