目的 分析GM 1神经节苷脂贮积症Ⅱ型的临床及基因变异特征。方法 回顾分析1例GM 1神经节苷脂贮 积症Ⅱ型患儿的临床资料，并复习相关文献。结果 患儿，男，1岁2个月，因运动发育倒退3个月就诊。脊椎侧位X线可见 鸟嘴突样改变。基因检测显示患儿GLB1基因存在2处杂合变异，c. 202 C>T、c. 832 G>A；经基因功能预测具有致病性。 患儿确诊为GM 1神经节苷脂贮积症Ⅱ型。结论 发现未见报道的GLB 1基因变异位点和临床表型，扩大了GM 1神经节 苷脂贮积症Ⅱ型基因变异谱。

Objective To analyze the clinical and genetic characteristics of GM 1 ganglioside storage syndrome type Ⅱ in Chinese children. Methods The clinical data and gene loci of a child with GM 1 ganglioside storage syndrome type Ⅱ were retrospectively analyzed, and related literature was reviewed. Results The patient, male, was 1 year and 2 months old. He went to hospital for motor developmental regression for 3 months. The lateral X-ray of spine showed beaklike changes. A compound heterozygous mutations of c. 202 c > T and c. 832 g > A were found in GLB1 gene, which were predicted to be pathogenic by in-silico analysis. The child was diagnosed as GM 1 ganglioside storage syndrome type Ⅱ. Conclusion The variants and clinical phenotypes of GLB1 gene were found, which expanded the GLB1 gene mutation spectrum.