Abstract: 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.

Key words: ganglioside Ⅱ; GLB 1 gene; child; china