AB型GM2神经节苷脂沉积症基因型、表型分析:1例报道并文献复习  

Genotype and phenotypic analysis of AB type GM2 gangliosidosis:1 case report and literature review

作　　者：陶美姣 黄萍[1] 杨光[2] Tao Mei-Jiao;Huang Ping;Yang Guang(Department of Pediatrics,Guangxi Academy of Medical Sciences/the People's Hospital of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530021,China;Department of Pediatrics,Chinese PLA General Hospital,Beijing 100853,China)

机构地区：[1]广西医学科学院/广西壮族自治区人民医院儿科,广西南宁530021 [2]解放军总医院儿科医学部,北京100853

出　　处：《解放军医学杂志》2024年第4期432-438,共7页Medical Journal of Chinese People's Liberation Army

摘　　要：目的探讨儿童期起病的AB型GM2神经节苷脂沉积症(GM2-GLS)的基因型和表型特点。方法报告广西壮族自治区人民医院儿科于2022年3月诊治的1例经Trio全外显子检测明确诊断的4岁起病的AB型GM2-GLS患儿,分析其临床资料及基因检测结果;检索PubMed文献数据库1991-2022年相关文献并进行文献复习。结果Trio全外显子测序结合Sanger验证结果显示,该患儿GM2A基因携带2个复合杂合突变:c.158_159delTG和c.496G>A,分别引起p.L53Rfs3移码变异和p.G166R错义变异。检索出相关文献22篇,共报道20例该型病例。ClinVar数据库共收录11种GM2A基因突变类型。结论AB型GM2-GLS是一种罕见的常染色体隐性遗传性溶酶体贮积症,其基因检测有助于明确诊断。Objective To investigate the genotypic and phenotypic characteristics of AB type GM2 gangliosidosis(GM2-GLS)with onset during childhood.Methods The report analyzed the clinical data and gene detection results of a 4-year-old child with AB type GM2-GLS diagnosed by Trio whole exome detection in March 2022 admitted to the Department of Pediatrics of Guangxi Zhuang Autonomous Region People's Hospital.The clinical data and genetic testing results are analyzed.A literature review was also conducted on relevant studies published between 1991 and 2022 in the PubMed database.Results The results of Trio whole exome sequencing and Sanger verification showed that the GM2A gene carried two compound heterozygous mutations:c.158_159delTG and c.496G>A,which caused p.L53Rfs3 frameshift mutation and p.G166R missense mutation,respectively.A total of 20 cases were reported in 22 articles.A total of 11 mutation types of GM2A gene were included in the ClinVar Database.Conclusions AB type GM2-GLS is a rare autosomal recessive lysosomal storage disease,and its gene test is helpful for definite diagnosis.

关 键 词：神经节苷脂沉积症 GM2A基因 GM2激活蛋白 

分 类 号：R748[医药卫生—神经病学与精神病学] R745.7[医药卫生—临床医学]