GLB1 基因变异致GM1 神经节苷脂贮积症Ⅱ型1 例报告并文献复习

doi:10.3969/j.issn.1000-3606.2021.11.004

临床儿科杂志 ›› 2021, Vol. 39 ›› Issue (11): 813-.doi: 10.3969/j.issn.1000-3606.2021.11.004

GLB1 基因变异致GM1 神经节苷脂贮积症Ⅱ型1 例报告并文献复习

李甜馨 1，陆相朋 2，彭琰琰 1，卢婷婷 2，廉文君 2，冯斌 2，都修波 2，马丙祥 2，郑宏 2

1 .河南中医药大学；2 .河南中医药大学第一附属医院儿科（河南郑州 450000）

发布日期:2021-11-19
通讯作者: 郑宏电子信箱：drzhenghs@126 .com
基金资助:
国家重点研发计划基金资助项目(No. 2019 YFC 1005100 )

GM1 ganglioside storage syndrome type II caused by GLB1 gene mutation: a case report and literature review

LI Tianxin1 , LU Xiangpeng2 , PENG Yanyan1 , LU Tingting2 , LIAN Wenjun2 , FENG Bin2 , DU Xiubo2 , MA Bingxiang2 , ZHENG Hong2

1 . Henan University of Traditional Chinese Medicine, Zhengzhou 450000 , Henan, China; 2 .Pediatrics Department, The First Affiliated Hospital of Henan University of Traditional Chinese Medicine, Zhengzhou 450000, Henan, China

Published:2021-11-19

摘要/Abstract

摘要： 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。

关键词: GM 1神经节苷脂贮积症Ⅱ型； GLB 1基因；儿童

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

李甜馨，陆相朋，彭琰琰，等. GLB1 基因变异致GM1 神经节苷脂贮积症Ⅱ型1 例报告并文献复习[J]. 临床儿科杂志, 2021, 39(11): 813-.

LI Tianxin, LU Xiangpeng, PENG Yanyan, et al. GM1 ganglioside storage syndrome type II caused by GLB1 gene mutation: a case report and literature review[J]. Journal of Clinical Pediatrics, 2021, 39(11): 813-.

GLB1 基因变异致GM1 神经节苷脂贮积症Ⅱ型1 例报告并文献复习

GM1 ganglioside storage syndrome type II caused by GLB1 gene mutation: a case report and literature review

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